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Neuromuscul Disord. 1994 May;4(3):263-7.

Two siblings with nemaline myopathy presenting with rigid spine syndrome.

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  • 1Department of Paediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

Abstract

Two siblings, ages 20 and 19 presented with more than 10 yr history of spinal rigidity and scoliosis. The parents were first cousins. Muscle biopsies were consistent with nemaline myopathy. This has been the first association between a familial rigid spine syndrome and nemaline myopathy.

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PMID:
7919974
[PubMed - indexed for MEDLINE]
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