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

We report a family with a new phenotype of autosomal recessive muscle dystr ophy caused by a dysferlin mutation. The onset of the illness is distal, in the muscles of the anterior compartment group. The disease is rapidly prog ressive, 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 heterogene ity of the dysferlinopathies.