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.

60 entries on 1 page. Showing entries 1 - 60.
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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     
+/. 52 c.(7657C>T) r.7657c>u p.Arg2553* Maternal (confirmed) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 RNA muscle, transcript level 40-90% normal PubMed: Sedlackova 2009 - - Germline - - TaqI- - - RNA PTT, SEQ - - DMD - PubMed: Sedlackova 2009 - M - Czech Republic - - - - - 1 Jana Zidkova
+/. 52 c.7657C>T r.7657C>U p.Arg2553* Maternal (confirmed) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 RNA muscle - - - Germline - - - - - DNA, RNA MLPA, RT-PCR, SEQ - - - - - carrier mother M no Argentina - - - - - 2 Jonás Juan-Mateu
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Hofstra - - Germline - - TaqI- - - DNA DGGE - - DMD - PubMed: Hofstra - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 52 c.7657C>T r.7657c>u p.Arg2553* Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 RNA muscle UMD 1611 database - - Germline - - DpnI-;DpnII-;MboI-;Sau3AI-;TaqI- - - DNA, RNA PTT, RT-PCR, SEQ - - DMD - UMD 1611 database - M - France - 11y - - - 1 Mireille Claustres
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Maternal (inferred) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - - - - Germline - - - - - DNA SEQ - - DMD - - - M - Australia - - - - - 1 Peter Taylor
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Spitali 2009 - - Germline - - - - - DNA SEQ - - DMD 19760747-Pat43 PubMed: Spitali 2009 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 de novo, in patient UMD 2586 database - - De novo - - DpnI-;DpnII-;MboI-;Sau3AI-;TaqI- - - DNA SEQ - - DMD - UMD 2586 database - F - France - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Maternal (inferred) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - UMD 2972 database - - Germline - - DpnI-;DpnII-;MboI-;Sau3AI-;TaqI- - - DNA SEQ - - DMD - UMD 2972 database - M - France - 22y - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.Arg2553* Maternal (inferred) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - UMD 2281 database - - Germline - - DpnI-;DpnII-;MboI-;Sau3AI-;TaqI- - - DNA SEQ - - DMD - UMD 2281 database - M - France - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - - - - Germline - - - - - DNA SEQ - - DMD - - - M - (Australia) - - - - - 1 Peter Taylor
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Maternal (confirmed) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - - - - Germline - - - - - DNA PCR, SEQ, MLPA - - DMD - - carrier mother M - Spain - - - - - 2 Jonás Juan-Mateu
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Maternal (inferred) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Yang 2013 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat15 PubMed: Yang 2013 carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.7657c>u p.Arg2553* Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 de novo, in patient PubMed: Deburgrave 2007, UMD 1643 database - - De novo - - DpnI-;DpnII-;MboI-;Sau3AI-;TaqI- - - DNA, RNA RT-PCR, SEQ - - DMD - PubMed: Deburgrave 2007, UMD 1643 database - M - France - - - - - 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Taylor 2007 - - Germline - - - - - DNA SEQ - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Sarah Lang
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Taylor 2007 - - Germline - - TaqI- - - DNA SEQ - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Sarah Lang
+/. 52 c.7657C>T r.7657c>u p.Arg2553* Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - UMD 2690 database - - Germline - - DpnI-;DpnII-;MboI-;Sau3AI-;TaqI- - - DNA, RNA RT-PCR, SEQ - - DMD - UMD 2690 database - M - France - - - - - 1 Human Genetics Diagnostic Laboratory - Cochin Hosp J Chelly, F Leturcq
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Flanigan 2009 - - Germline - - TaqI- - - DNA SEQ - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 52 c.7657C>T r.7657c>u p.Arg2553* Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 RNA muscle, {GenBankAF501246}; potential variant 2nd X-chromosome - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - DMD - - symptomatic carrier F - France - - - - - 1 Laurence Michel-Calemard
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - {GenBankAF501247} - - Germline - - TaqI- - - DNA SEQ - - DMD - - carrier female F - France - - - - - 1 Laurence Michel-Calemard
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - - - - Germline - - TaqI- - - DNA CSCE - - DMD - - - M - United Kingdom (Great Britain) - - - - - 1 Emma Ashton
+/. 52 c.7657C>T r.7657c>u p.Arg2553* Parent #1 - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - {GenBankAF501248} - - Germline - - TaqI- - - DNA, RNA RT-PCR, SEQ - - DMD - - large family, apparently unrelated to other patients M - France - - - - - 1 Laurence Michel-Calemard
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat250 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Okubo 2017 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat251 PubMed: Okubo 2017 analysis 1497 dystrophinopathy cases M - Japan - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Maternal (inferred) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - DMD Pat17 PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Maternal (inferred) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zhong 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - DMD Pat18 PubMed: Zhong 2017 - M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Maternal (inferred) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - MD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F2 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Xu 2018 - - Germline/De novo (untested) - 1/237 cases DMD - - - DNA DHPLC, PCR, SEQ - - DMD F148 PubMed: Xu 2018 analysis 237 DMD families M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 3/284 cases - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 3/284 cases - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 3/284 cases - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Toksoy 2019 - rs398124050 Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0164 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zhong 2019 - - Germline - 1/78 carriers - - - DNA MLPA, SEQ - - Healthy/Control NMC9 PubMed: Zhong 2019 analysis 78 carriers BMD/DMD, healthy F - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Parent #1 - pathogenic g.31747751G>A g.31729634G>A - - DMD_000273 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398124050 Germline - 1/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown ACMG pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 ACMG PVS1, PM2, PP3, PP5 PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD PatS26 PubMed: Kohli 2020 - M - India - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown ACMG pathogenic g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ whole blood - BMD/DMD PM76 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Maternal (inferred) - pathogenic (recessive) g.31747751G>A - - - DMD_000273 - PubMed: Luce 2021 - - Unknown - - - - - DNA SEQ-NG-I BLOOD - MD #774 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 - - Germline - 1/152 cases - - - DNA MLPA, SEQ - - DMD DMD-147 PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 analysis 152 BMD/DMD cases M - Peru - - - - - 1 Maria Luisa Guevara Gil
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown ACMG pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zamani 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - BMD/DMD Pat33 PubMed: Zamani 2022 - M - Iran - - - - - 1 Mansour Heidari
+/. 52 c.7657C>T r.(?) p.(Arg2553*) Maternal (confirmed) - pathogenic (recessive) g.31747751G>A - - - DMD_000273 - PubMed: He 2022 - - Germline - - - - - DNA SEQ - - DMD Pat1 PubMed: He 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Maternal (confirmed) - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Tang 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - MD Pat25 PubMed: Tang 2023 family, carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD D589 PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown ACMG pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 ACMG PVS1, PS4, PM2 - - - Germline - - Teodora Barbarii - - DNA ? - - DMD - - - M - Romania - - - - - 1 Teodora Barbarii
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown ACMG pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat220 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown ACMG pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat221 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown ACMG pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zhao 2024, Journal: Zhao 2024 - - Germline - - - - - DNA MLPA, SEQ - - BMD/DMD S2-Pat222 PubMed: Zhao 2024, Journal: Zhao 2024 patient M - China - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat69 PubMed: Xie 2024 family M - China - - - - not treated 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat70 PubMed: Xie 2024 family M - China - - - - not treated 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. 52 c.7657C>T r.(?) p.(Arg2553Ter) Unknown - pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Zinina 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - BMD/DMD 12979 PubMed: Zinina 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+?/. 52 c.7657C>T r.? p.(Arg2553Ter) Unknown - likely pathogenic (recessive) g.31747751G>A g.31729634G>A - - DMD_000273 - PubMed: Sawahreh 2025, Journal: Sawahreh 2025 - - Germline/De novo (untested) - - - - - DNA SEQ - - MD - PubMed: Sawahreh 2025, Journal: Sawahreh 2025 - M - India - - - - - 1 Johan den Dunnen
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