[Genetics and molecular aspects of dystrophinopathies].

doi:10.1016/S0929-693X(16)30002-1

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Article

[Genetics and molecular aspects of dystrophinopathies].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Dec 2015

Leturcq F, Tuffery-Giraud S

Abstract excerpt

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene that encodes the cytoskeletal protein, dystrophin. Dystrophinopathies are inherited in an X-linked recessive manner. Due to the tremendous size of the gene (2.2 megabases), the DMD locus has a high spontaneous mutation rate, and one third of sporadic cases of DMD are due to a de novo mutation. There are...

Topics

Child
Dystrophin
Genotype
Humans
Muscular Dystrophy, Duchenne
Mutation
Pathology, Molecular
Phenotype

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PMID: 26773583
DOI: 10.1016/S0929-693X(16)30002-1

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