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.

77 entries on 1 page. Showing entries 1 - 77.
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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     
+/. 4i_7i c.(227_309)_(557_831+10)del r.(del) p.(fs) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >8y - - medication steroids; no ventilator; 1 Manuel F. Mas Rodriguez
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 2633 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2633 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 1828 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1828 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 1836 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1836 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 1851 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1851 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 1886 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1886 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 2357 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2357 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 2121 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2121 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 26 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 26 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 362 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 362 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 2645 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2645 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1394 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1394 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 701 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 701 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 1694 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1694 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 2505 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2505 database - M - Israel - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2142 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2142 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 2210 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2210 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tuffery-Giraud 2009, UMD 2211 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2211 database - M - France - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(e5-e7del) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del e5-e7; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >2y - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Zeng 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Zeng 2007 - M - China - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - - Germline - - - - - DNA MLPA - - DMD 26110187-Pat1d PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - M - South Africa black >24y - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat82 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex05-07; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 77 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, isolated case M - India - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Polavarapu 2019 - - Germline yes - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, family, several affected M - India - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D254 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D290 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7; c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D688 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7, c.(264+1_265-1)_(649+1_650-1)del - DMD_010507 - PubMed: Spitali 2019, Journal: Spitali 2019 - - Germline/De novo (untested) - - - - - DNA ? - - - - PubMed: Spitali 2019, Journal: Spitali 2019 - M - - - - - - - 1 Irina Zaharieva
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del ex5-7del - DMD_010507 - PubMed: Yang 2019 - - Germline - 1/100 BMD/DMD cases - - - DNA MLPA - - BMD/DMD P49 PubMed: Yang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(del) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del ex5ex7del, c.265-?_649+?del - DMD_010507 - 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
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del ex5ex7del, c.265-?_649+?del  - DMD_010507 - 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
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0357 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD1503 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - BMD CASE_0217 PubMed: Toksoy 2019 singleton patient, no family history, carrier mother M - Turkey - - - - - 1 GĂĽven Toksoy
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 3/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Annexstad 2019 - - Germline/De novo (untested) - 1/67 cases - - - DNA MLPA - - BMD/DMD - PubMed: Annexstad 2019 analysis 67 unrelated DMD families M - Norway - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Zhao 2018 - - Germline/De novo (untested) - 1/121 patients - - - DNA MLPA - - BMD/DMD - PubMed: Zhao 2018 analysis 121 unrelated male probands M - China - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Zimowski 2014 - - De novo - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1400 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1461 PubMed: Zimowski 2014 analysis 180 B/DMD families; carrier mother M - Poland - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs*) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1490 PubMed: Zimowski 2014 analysis 180 B/DMD families M - Poland - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 3/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 3/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.fs Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.fs Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.fs Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 c.265_649del - DMD_010507 - PubMed: Triana-Fonseca 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Triana-Fonseca 2021 - M - Colombia - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del - - DMD_010507 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Iskandar 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD LR PubMed: Iskandar 2022 - M - Indonesia - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7, 265-?_649+?del - DMD_010507 - PubMed: Tyagi 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat8 PubMed: Tyagi 2019 - M - India - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Dwianingsih 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD dmd50 PubMed: Dwianingsih 2023 - M - Indonesia - - - - - 1 Rusdy Ghazali Malueka
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Braga 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Braga 2023 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 4i_7i c.(227_309)_(557_831+10)del r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7 - DMD_010507 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #52LP PubMed: Luce 2024 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(Val89Metfs*13) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7, c.(227_309)_(557_831+10)del - DMD_010507 - Journal: Orozco 2025 - - Germline - - - - - DNA MLPA peripheral blood - BMD/DMD 456111 Journal: Orozco 2025 - M no Guatemala America-C;mestizo - - - - 1 Marcela Elizabeth Orozco Orozco
+/. 4i_7i c.(227_309)_(557_831+10)del r.(265_649del) p.(Val89Metfs*13) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32841460_32862937)del g.(32699102_32809585)_(32823343_32844820)del del ex5-7, c.(227_309)_(557_831+10)del - DMD_010507 - Journal: Orozco 2025 - - Germline - - - - - DNA MLPA peripheral blood - BMD/DMD 409657 Journal: Orozco 2025 - M no Guatemala America-C;mestizo - - - - 1 Marcela Elizabeth Orozco Orozco
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