期刊
NEUROLOGY
卷 65, 期 8, 页码 1304-1305出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000180407.15369.92
关键词
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Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP gene (R159H; 688G > A) segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but without clinical signs of dementia.
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