期刊
NEUROMUSCULAR DISORDERS
卷 14, 期 5, 页码 325-328出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2004.02.009
关键词
Charcot-Marie-Tooth disease with deafness; PMP22 gene; a novel missense mutation
Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C > G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22. (C) 2004 Elsevier B.V. All rights reserved.
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