期刊
NEUROMUSCULAR DISORDERS
卷 12, 期 1, 页码 13-18出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0960-8966(01)00231-0
关键词
congenital myopathy; nemaline; muscle weakness; slowness
We present a five-generation family with a novel phenotype of autosomal dominant nemaline myopathy not linked to the three genes known to be causative for nemaline myopathy (alpha-tropomyosin-3, nebulin, and alpha-actin). Although there was muscle weakness in the neck flexors and proximal muscles of the limbs, as found in other families, facial, ankle dorsiflexor and respiratoy muscles were normal. The most remarkable clinical feature was a peculiar kind of slowness in movement not reported previously in nemaline myopathy. (C) 2002 Elsevier Science B.V. All rights reserved.
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