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DMD - dystrophin
- Synonym(s) : BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, muscular dystrophy, Duchenne and Becker types
- Previous symbols and names : MRX85, dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85
- Type : gene with protein product
- Chromosomal location : Xp21.2-p21.1
- OMIM: 300377
- HGNC: 2928
- UniProtKB: P11532
- Genatlas: DMD
- Ensembl: ENSG00000198947
- IUPHAR-DB: -
- Reactome: P11532
- LOVD: DMD
Diseases list
- Disease-causing germline mutation(s) in Becker muscular dystrophy
- Disease-causing germline mutation(s) in Duchenne muscular dystrophy
- Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
- Disease-causing germline mutation(s) in Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- Disease-causing germline mutation(s) in X-linked non-syndromic intellectual disability
: AssessedAdditional information
Health care resources for this gene
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Specialised Social Services
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