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Article

Phenotype-genotype analysis of dystrophinopathy caused by duplication mutation in Dystrophin gene in an African patient.

African health sciences - 1 Dec 2011

Peddareddygari L R, Pillai B H, Nochlin D, Sharer L R, Grewal R P

Abstract excerpt

BACKGROUND: The dystrophinopathies, duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are common X-linked genetic myopathies resulting from mutations in the dystrophin gene. Duplication is an uncommon mechanism of mutation occurring in about 5% of DMD cases. The global prevalence of DMD is reported as 1/18,000 males. There is little clinical or epidemiological data on African patients. OBJECTIVE: To...

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Identifiers

PMID: 22649443
PMCID: PMC3362969

Genes

DMD

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Source receipt: pubmed, retrieved 7 Sept 2026.

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