Duchenne muscular dystrophy (DMD) is caused by mutation in the gene encoding dystrophin (DMD; 300377) on chromosome Xp21.

The DMD gene encodes dystrophin, a large muscle protein that is mutant in Duchenne (310200) and Becker (300376) muscular dystrophy, defined as progressive ...

Usual onset before age 6 years and death by age 20 - Incidence of 1 in 3,500 boys - About 20% of female mutation carriers may show mild muscle weakness

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

We describe a novel deep intronic pathogenic variant in the DMD gene identified through mRNA analysis on muscle biopsy and gDNA sequencing.

15 июн. 2020 г. · Deletions in DMD gene (OMIM: 300377) occurred in 45.5% of patients (5/11), while duplications were observed in 27.3% (3/11). Both mutation types ...

Gene Omim Number, Disease Omim Number, Chromosome Location, Gene Mutation, Allelic Variant, Omim Phenotype, Sample Count. DMD, 300377 · 310200, Xp21.2, 1. DMD ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...