Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype

Isabel Illa, Carme Serrano-Munuera, Eduard Gallardo, Adriana Lasa, Ricardo Rojas-Garca, Jaume Palmer, Pia Gallano, Montserrat Baiget, Chie Matsuda, Robert H. Brown

Research output: Contribution to journalArticleResearchpeer-review

214 Citations (Scopus)

Abstract

We report a family with a new phenotype of autosomal recessive muscle dystrophy caused by a dysferlin mutation. The onset of the illness is distal, in the muscles of the anterior compartment group. The disease is rapidly progressive, leading to severe proximal weakness. Muscle biopsy showed moderate dystrophic changes with no vacuoles. Dysferlin immunostaining was negative. Gene analysis revealed a frameshift mutation in the exon 50 (delG5966) of the DYSF gene. This phenotype further demonstrates the clinical heterogeneity of the dysferlinopathies.
Original languageEnglish
Pages (from-to)130-134
JournalAnnals of Neurology
Volume49
Issue number1
DOIs
Publication statusPublished - 28 Feb 2001

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