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.

340 entries on 4 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     
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del 52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case2 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del 52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case4 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del 52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - Journal: Shrestha 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - - Case9 Journal: Shrestha 2016 - M - Nepal - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(del) p.(fs) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del ex52 del; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - - - - - F - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 1839 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1839 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 2018 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2018 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 1547 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1547 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2433 database - - De novo - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2433 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 2321 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2321 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1665 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1665 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 348 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 348 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2913 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2913 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 349 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 349 database - M - (France) - 17y - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 350 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 350 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 351 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 351 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 352 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 352 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 353 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 353 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 125 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 125 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 2982 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2982 database carrier mother, affected brother F - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 24 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 24 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 1036 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1036 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 755 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 755 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 1386 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1386 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 2500 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2500 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 1739 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1739 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2102 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2102 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 2463 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2463 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 2126 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2126 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Tuffery-Giraud 2009, UMD 2189 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2189 database - M - France - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - Jorge ESHG2006 P1191 - - Germline - - - - - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Wu 2009 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Wu 2009 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(e52-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del e52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(e52-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del e52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(e52-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del e52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(e52-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del e52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >7y - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(e52-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del e52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >10y - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 also found ex1-10 dup/tri (other DNA sample) PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - - - (Germany) - - - - - 1 Bart Janssen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - MD - PubMed: Janssen 2005 - - - (Germany) - - - - - 1 Bart Janssen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.? Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - DMD - - weakness M - (Australia) - >7y - - - 1 Peter Taylor
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - (Australia) - >2y - - - 1 Peter Taylor
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - 50y old male; daughter carrier of deletion 45-55 M - (Australia) - >50y - - - 1 Peter Taylor
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(7543_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - Bovolenta, in press - - Germline - - - - - DNA MLPA, PCR - - DMD - Bovolenta, in press - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del ex52del; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del ex52del; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Albania - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del ex52del; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del ex52del; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Wang 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families, M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Suh 2017 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat? PubMed: Suh 2017 - F - Korea - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat149 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat150 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat151 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat152 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat153 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat154 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat155 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - steroid therapy 1 Luz Berenice Lopez-Hernandez
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.? Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - 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
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D176 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D194 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D204 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D259 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D278 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D292 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 51i_52i c.(7422_7628)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31747780_31792197)del g.(31679461_31729663)_(31729663_31774080)del del ex52; c.(7542+1_7543-1)_(7660+1_7661-1)del - DMD_015252 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D381 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
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