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.

291 entries on 3 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     
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >19y - - medication steroids and creatine; no ventilator; no surgery scoliosis/contractures 1 Manuel F. Mas Rodriguez
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >22y - - no medication; no surgery scoliosis/contractures; 1 Manuel F. Mas Rodriguez
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(del) p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >24y - - no medication; BiPaP ventilator; no surgery scoliosis/contractures 1 Manuel F. Mas Rodriguez
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(del) p.(fs) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49-52 del; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2931 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2931 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 1804 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1804 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 1821 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1821 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 1844 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1844 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2054 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2054 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 1852 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1852 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 1646 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1646 database nephew of --5423502701 M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 1974 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1974 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 2016 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2016 database uncle patient --3409406381 M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1614 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1614 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 1393 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1393 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 320 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 320 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 322 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 322 database symptomatic DMD carrier, 2 affected nephews affected; relative of 371545900061 (family 15459) F - (France) - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 mosaicism, germline PubMed: Tuffery-Giraud 2009, UMD 2701 database - - De novo - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2701 database mosaicism, somatic M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 736 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 736 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2747 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2747 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 2583 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2583 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 2582 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2582 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 1743 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1743 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 2085 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2085 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tuffery-Giraud 2009, UMD 2096 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2096 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 mosaicism, germline PubMed: Tuffery-Giraud 2009, UMD 2475 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2475 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2485 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2485 database - M - France - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 de novo, in patient PubMed: Piko 2009 - - De novo - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases F - Hungary - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(e49-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del e49-e52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >12y - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(e49-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del e49-e52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(e49-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del e49-e52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >10y - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(e49-e52del) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del e49-e52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >9y - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 de novo, in mother PubMed: Bakker - - Germline - - - - - DNA MLPA, PCRm, Southern - - DMD - PubMed: Bakker - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 de novo, in mother PubMed: Bakker - - Germline - - - - - DNA MLPA, Southern - - DMD - PubMed: Bakker - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA, PCRm, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 carrier maternal gandmother PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA, PCRq - - DMD - PubMed: Taylor 2007 - F - Australia - - - - - 2 Michael Buckley
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(?) p.fs Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.(7099_7660del) p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - - - - Germline - - - - - DNA MLPA, PCRm, Southern - - DMD - - - - - Yugoslavia - - - - - 1 Jovan Pesović
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Wang 2017 - - Germline - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families M - China - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat144 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 74 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 75 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - 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
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D8 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D15 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D27 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D210 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D281 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D300 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D342 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D422 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D434 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D475 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D493 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D576 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D589 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D593 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52; c.(7098+1_7099-1)_(7660+1_7661-1)del - DMD_014952 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D622 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49-52 del - DMD_014952 - PubMed: Ansar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat43 PubMed: Ansar 2019 - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del - DMD_014952 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del  - DMD_014952 - 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
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del  - DMD_014952 - 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
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del - DMD_014952 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del  - DMD_014952 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del - DMD_014952 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del  - DMD_014952 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.6763-?_7542+?del  - DMD_014952 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del - DMD_014952 - 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
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del - DMD_014952 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Dr Silvana Tedeschi
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del ex49ex52del, c.7099-?_7660+?del - DMD_014952 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Dr Silvana Tedeschi
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52 - DMD_014952 - PubMed: Luce 2016, Journal: Luce 2016 - - Germline - - - - - DNA MLPA - - BMD/DMD #154 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52 - DMD_014952 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 4/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 48i_52i c.(7017_7099-11)_(7628_7786)del r.? p.? Unknown - pathogenic (recessive) g.(31697578_31747780)_(31854947_31893386)del g.(31679461_31729663)_(31836830_31875269)del del ex49-52 - DMD_014952 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0720 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
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