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  • Title: Nemaline myopathy and a mitochondrial neuromuscular disorder in one family.
    Author: Shapira YA, Yarom R, Blank A.
    Journal: Neuropediatrics; 1981 May; 12(2):152-65. PubMed ID: 6267500.
    Abstract:
    A family composed of parents and four children is reported. Two brothers presented from early infancy with hypotonia and non-progressive weakness. Muscle biopsy in both revealed numerous typical nemaline rods. The father, suffering from backache, had a slow MNCV of both common peroneal nerves. His muscle revealed variation in fiber size, splitting, type 1 atrophy and numerous pleomorphic mitochondria with crystalline inclusions. The mother's muscle showed type 2 atrophy, foci of myofibrillar degeneration, and lipofuscin bodies. In a 12-year-old daughter and a 5-year-old son the muscle revealed an excess of small, bizarre mitochondria and lipid droplets. The coexistence of nemaline myopathy and a mitochondrial neuromuscular disorder in one family has never been reported in the literature. It might be a coincidence of two rare muscle disorders in one family, or it might be the polymorphic expression of a single etiological factor causing a defect in protein synthesis.
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