Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype
I Illa, C Serrano‐Munuera, E Gallardo… - Annals of Neurology …, 2001 - Wiley Online Library
Annals of Neurology: Official Journal of the American Neurological …, 2001•Wiley Online Library
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 …
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 …
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. Ann Neurol 2001;49:130–134
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