Abstract
A family with a muscular dystrophy affecting 16 members over 5 generations is described. Muscle wasting affected predominantly proximal muscles, but in some cases facial and distal muscles were also involved. The disease was slowly progressive and compatible with a normal life span. Muscle biopsies were performed on 2 patients. Type I fibres were reduced in diameter. Central nuclei, surrounded by a clear zone were seen in about 60% of fibres of both Type I and II. On electron microscopy the nuclei appeared normal. There were aggregates of mitochondria, occasional myelin figures, and prominent Golgi vesicles. In isolated areas dilatation of sarcoplasmic reticulum was noted.
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