Article
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
Annals of neurology - 1 Jan 2001
Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-García R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown R H
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.