A frameshift mutation in exon 50 (delG5966) of the DYSF gene was identified as the cause of a rapidly progressive distal anterior compartment myopathy in a family.
Case Report
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
Illa et al. (Mon,) conducted a case report in Distal anterior compartment myopathy (dysferlinopathy). A frameshift mutation in exon 50 (delG5966) of the DYSF gene was identified as the cause of a rapidly progressive distal anterior compartment myopathy in a family.
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