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.

52 entries on 1 page. Showing entries 1 - 52.
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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     
+/. 2i_44i c.(58_127)_(6381_6537)del r.(94_6438del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Tuffery-Giraud 2009, UMD 1803 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1803 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.(94_6438del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Tuffery-Giraud 2009, UMD 2012 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2012 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.(94_6438del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Tuffery-Giraud 2009, UMD 49 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 49 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.(94_6438del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1374 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1374 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.(94_6438del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2871 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2871 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.(94_6438del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2473 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2473 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.(e3-e44del) p.del Parent #1 - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del e3-e44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >23y - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.(94_6438del) p.(del?) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_44i c.(58_127)_(6381_6537)del r.(94_6438del) p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Schwartz 2004 - - Germline - - - - - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - - - - 1 Marianne Schwartz
+/. 2i_44i c.(58_127)_(6381_6537)del r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del ex3ex44del; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - - - - Unknown - - - - - DNA MLPA - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_44i c.(58_127)_(6381_6537)del r.(94_6438del) p.(del?) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del deletion 03_44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - - - - Germline - - - - - DNA MLPA - - Healthy/Control - - DMD carrier female F - Argentina - - - - - 1 Maria Roque Moreno
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Wang 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families, M - China - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 2i_44i c.(58_127)_(6381_6537)del r.(del) p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del g.(31986632_32235032)_(32867938_33038255)del - DMD_010344 - PubMed: Marquis-Nicholson 2013 - - Germline - - - - - DNA MLPA - - DMD 23476807-Pat4 PubMed: Marquis-Nicholson 2013 2-generation family, 1 affected, heterozygous carrier mother M - New Zealand - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Case 5 PubMed: Tomar 2019 - M - Singapore - - - - - 1 Poh San Lai
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D38 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D39 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D55 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D73 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D97 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44; c.(93+1_94-1)_(6438+1_6439-1)del - DMD_010344 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D172 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD4958 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD8586 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - BMD CASE_0009 PubMed: Toksoy 2019 singleton patient, no family history, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0190 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD Pat155 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - 29-gene panel MD P41 PubMed: Patel 2021 patient M - India India-W - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Zamani 2022, Journal: Zamani 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Zamani 2022, Journal: Zamani 2022 - M - Iran - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Iskandar 2022 - - Germline - - - - - DNA MLPA - - BMD/DMD AN PubMed: Iskandar 2022 - M - Indonesia - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Iskandar 2022 - - Germline - - - - - DNA MLPA - - BMD/DMD AR PubMed: Iskandar 2022 - M - Indonesia - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Liu 2023 - - Germline - - - - - DNA MLPA - - Healthy/Control Pat108 PubMed: Liu 2023 female, son with DMD F - China - - - - - 1 Johan den Dunnen
+/. 2i_44i c.(58_127)_(6381_6537)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - PubMed: Dwianingsih 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD dmd31 PubMed: Dwianingsih 2023 - M - Indonesia - - - - - 1 Rusdy Ghazali Malueka
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - 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
+/. 2i_44i c.(58_127)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(32867904_33038291)del g.(31968416_32216973)_(32849787_33020174)del del ex3-44 - DMD_010344 - 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
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