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.

58 entries on 1 page. Showing entries 1 - 58.
Legend  

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     
+/. 2i_4i c.(59_128)_(228_310)del r.(del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 in paper as del ex3 PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - 0 - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >18y 0 - no medication; no ventilator; no scoliosis surgery 1 Manuel F. Mas Rodriguez
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2044 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2044 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 1873 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1873 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 2002 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2002 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 1934 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1934 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 1935 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1935 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 1475 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1475 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 512 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 512 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 2951 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2951 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 418 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 418 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2873 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2873 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 445 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 445 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 513 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 513 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 409 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 409 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 410 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 410 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 411 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 411 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 514 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 514 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tuffery-Giraud 2009, UMD 2782 database - - Germline - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2782 database - M - (France) - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1782 database - - De novo - - - 0 - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1782 database - M - France - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - Vancso ESHG2008 P01.221 - - Germline - - - 0 - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Piko 2009 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(?) Maternal (confirmed) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Lo 2006 - - Germline - - - 0 - DNA MLPA, PCRm - - BMD - PubMed: Lo 2006 carrier mother M - China - - 0 - - 2 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(e3-e4del) p.fs? Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del e3-e4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Chen 2013 - - Unknown yes - - 0 - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >13y 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(e3-e4del) p.fs? Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del e3-e4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Chen 2013 - - Unknown yes - - 0 - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >32y 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(e3-e4del) p.del Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del e3-e4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Chen 2013 - - Unknown yes - - 0 - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >9y 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - - - - Germline - - - 0 - DNA MLPA - - BMD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - - - - Germline - - - 0 - DNA MLPA, PCRm, Southern - - BMD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Schwartz 2004 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - 0 - - 1 Marianne Schwartz
+/. 2i_4i c.(59_128)_(228_310)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del ex3ex4del; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - - - - Unknown - - - 0 - DNA MLPA - - BMD - - - M - Italy - - 0 - - 1 Alessandra Ferlini
+/. 2i_4i c.(59_128)_(228_310)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del ex3ex4del; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - - - - Unknown - - - 0 - DNA MLPA - - BMD - - - M - Italy - - 0 - - 1 Alessandra Ferlini
+/. 2i_4i c.(59_128)_(228_310)del r.(94_264del) p.(del) Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - - - - Germline - - - 0 - DNA MLPA, PCR - - BMD - - - M - Italy - - 0 - - 1 Alessandra Ferlini
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD 28610567-Pat145 PubMed: Deepha 2017 - M - India - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - 1 Moon-Woo Seong
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - 1 Moon-Woo Seong
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD 27593222-Pat? PubMed: Cho 2017 - M - Korea - - 0 - - 1 Moon-Woo Seong
+/. 2i_4i c.(59_128)_(228_310)del r.? p.(del) Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex03-04; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Case 4 PubMed: Tomar 2019 - M - Singapore - - 0 - - 1 Poh San Lai
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, isolated case M - India - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.(del) Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4; c.(93+1_94-1)_(264+1_265-1)del - DMD_010304 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D83 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. 2i_4i c.(59_128)_(228_310)del r.? p.(del) Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del ex3ex4del, c.94-?_264+?del - DMD_010304 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - 0 - - 1 Vincenzo Nigro
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - DNA MLPA - - BMD M5036 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.(del) Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex03ex04, c.94-?_264+?del - DMD_010304 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - 0 - - 1 Filippo Maria Santorelli
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - - - - - India - - 0 - - 1 Shubha R Phadke
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Mah 2011 - - Germline/De novo (untested) - 5/773 cases - 0 - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - 0 - DNA MLPA, SEQ - - MD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Ma 2018 - - Germline/De novo (untested) - 1/1042 cases - 0 - DNA MLPA - - BMD/DMD - PubMed: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - 0 - - 1 Shiwen Wu
+/. 2i_4i c.(59_128)_(228_310)del r.? p.(del) Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4, c.94-?_264+?del - DMD_010304 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat02 PubMed: Rasic 2015 analysis intellectual ability 41 DMD patients M - Serbia - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Parent #1 - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 and ex19-43 - DMD_010304 non-contiguous del ex3-4 and ex19-43 PubMed: Mohammed 2018 - - Germline/De novo (untested) - 1/68 cases - 0 - DNA MLPA - - BMD/DMD Fam? PubMed: Mohammed 2018 analysis 68 unrelated DMD families M - Kuwait - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Garcia-Planells 2009 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - PubMed: Garcia-Planells 2009 patient, non-carrier mother M - Spain - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Straathof 2016 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat1 PubMed: Straathof 2016 carrier daughter M - Netherlands - 57y 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Garcia 2014 - - De novo - - - 0 - DNA MLPA - - BMD/DMD ? PubMed: Garcia 2014 - M - Spain - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Mah 2011 - - Germline/De novo (untested) - 5/773 cases - 0 - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Mah 2011 - - Germline/De novo (untested) - 5/773 cases - 0 - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Mah 2011 - - Germline/De novo (untested) - 5/773 cases - 0 - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - 0 - - 1 Johan den Dunnen
+/. 2i_4i c.(59_128)_(228_310)del r.? p.? Unknown - pathogenic (recessive) g.(32841459_32862936)_(32867903_33038290)del g.(32823342_32844819)_(32849786_33020173)del del ex3-4 - DMD_010304 - PubMed: Mah 2011 - - Germline/De novo (untested) - 5/773 cases - 0 - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - 0 - - 1 Johan den Dunnen
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