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  • Title: Distal muscular dystrophy with autosomal recessive inheritance.
    Author: Scoppetta C, Vaccario ML, Casali C, Di Trapani G, Mennuni G.
    Journal: Muscle Nerve; 1984; 7(6):478-81. PubMed ID: 6543900.
    Abstract:
    Two sisters presented with distal weakness and their muscle biopsy was dystrophic. This distal muscular dystrophy has an autosomal recessive inheritance and its features are somewhat different from the more common autosomal dominant distal muscular dystrophy and include: a) onset in early adult life; b) involvement of distal leg muscles and especially peroneal muscles; c) marked early elevation of serum creatine kinase (CK); d) brief duration, small amplitude motor units and fibrillation on electromyography; and e) histologic features of a dystrophic myopathy.
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