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Article

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

European journal of human genetics : EJHG - 1 Dec 2005

Tuffery-Giraud Sylvie, Saquet Céline, Thorel Delphine, Disset Antoine, Rivier François, Malcolm Sue, Claustres Mireille

Abstract excerpt

Although Becker muscular dystrophy (BMD; MIM 300376) is mainly caused by gross deletions of the dystrophin gene, the nature of the mutations involved in the remaining cases is of importance because of the milder clinical course of Becker. We have extensively characterized the mRNA changes associated with five novel point mutations giving rise to a Becker phenotype, which confirm that Becker arises largely due to...

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PMID: 16077730
DOI: 10.1038/sj.ejhg.5201478

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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