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Neuropediatrics 1981; 12(2): 152-165
DOI: 10.1055/s-2008-1059648
© Georg Thieme Verlag KG Stuttgart · New York

NEMALINE MYOPATHY AND A MITOCHONDRIAL NEUROMUSCULAR DISORDER IN ONE FAMILY1

Y. A. Shapira , R.  Yarom , A.  Blank
  • Hadassah-Hebrew University Hospitals, Depts. of Pediatrics, Pathology, Physical Medicine and Rehabilitation, Jerusalem, Israel
1 Reprint requests to Y. A. Shapira, M. D., Dept. of Neurology, School of Medicine, Vanderbilt University, Nashville, Tennessee 37232, U.S.A.
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Publication History

Publication Date:
19 March 2008 (online)

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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.

Key words

Nemaline myopathy - mitochondrial neuromuscular disorder

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