Full data view for gene DMD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

139 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.del p.fs? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del exon 51-55del, ChrX:31702000_31555711del; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Bell 2011 - - Unknown - - - - - DNA SEQ-NG - - ? NA04364 PubMed: Bell 2011 - M - - - - - - - 1 Global Variome, with Curator vacancy
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >13y - - no medication; no ventilator; no scoliosis surgery 1 Manuel F. Mas Rodriguez
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >10y - - medication steroids; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 1818 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1818 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 de novo, in mother PubMed: Tuffery-Giraud 2009, UMD 1648 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1648 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 de novo, in mother PubMed: Tuffery-Giraud 2009, UMD 1649 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1649 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 1560 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1560 database - M - Lebanon - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 1116 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1116 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 1117 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1117 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 1113 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1113 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 346 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 346 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 1114 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1114 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 1115 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1115 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 344 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 344 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 343 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 343 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 124 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 124 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 1178 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1178 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2710 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2710 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Tuffery-Giraud 2009, UMD 2643 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2643 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Khordadpoor-Deilamani 2011 - - Germline - - - - - DNA MLPA, PCRm - - MD - PubMed: Khordadpoor-Deilamani 2011 - M - Iran - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(e51-e55del) p.fs Parent #1 - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del e51-e55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >3y6m - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(e51-e55del) p.fs Parent #1 - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del e51-e55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(e51-e55del) p.fs Parent #1 - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del e51-e55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(e51-e55del) p.fs Parent #1 - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del e51-e55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Gatta 2005 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Gatta 2005 - M - Italy - - - - - 2 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Serbia Montenegro - - - - 1 Tanja Lalic
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(7310_8217del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del ex51ex55del; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del ex51ex55del; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del ex51ex55del; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del ex51ex55del; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat73 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat74 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D24 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D299 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D323 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D344 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D411 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D480 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D578 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51ex55, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51ex55, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.(del) p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 germline mosaicism in mother PubMed: Xiao 2019 - - De novo - - - - - DNA MLPA - - DMD Fam PubMed: Xiao 2019 2-generation family, 2 affected brothers, non-carrier mother M - China - - - - - 2 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del ex51-55 del - DMD_015155 - PubMed: Ansar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat29 PubMed: Ansar 2019 - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del ex51ex55del, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del ex51ex55del, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del ex51ex55del, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Luce 2016, Journal: Luce 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #76 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Luce 2016, Journal: Luce 2016, PubMed: Luce 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD #67 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0387 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD6696 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7510 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51ex55, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Filippo Maria Santorelli
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51ex55, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Filippo Maria Santorelli
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51ex55, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Filippo Maria Santorelli
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51ex55, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Filippo Maria Santorelli
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51ex55, c.7310-?_8217+?del - DMD_015155 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Filippo Maria Santorelli
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Zhang 2019 - - De novo - - - - - DNA MLPA - - BMD/DMD Pat41 PubMed: Zhang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Wang 2019 - - Germline/De novo (untested) - 2/70 cases - - - DNA MLPA, SEQ - - BMD/DMD P37 PubMed: Wang 2019 analysis 70 unrelated MD families M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Wang 2019 - - Germline/De novo (untested) - 2/70 cases - - - DNA MLPA, SEQ - - BMD/DMD P38 PubMed: Wang 2019 analysis 70 unrelated MD families M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Zimowski 2014 - - De novo - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1414 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del - - DMD_015155 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 - M - Romania - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del - - DMD_015155 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 carrier mother of 2573/18 F - Romania - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del - - DMD_015155 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 - M - Romania - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del - - DMD_015155 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 carrier mother of 2573/18 F - Romania - - - - - 1 Alessandra Ferlini
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55; c.(7309+1_7310-1)_(8217+1_8218-1)del - DMD_015155 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 10/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.fs Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_55i c.(7309+13_7422)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(31792197_31838079)del g.(31507271_31627822)_(31774080_31819962)del del ex51-55 - DMD_015155 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
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