期刊
NEUROMUSCULAR DISORDERS
卷 13, 期 10, 页码 830-834出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/S0960-8966(03)00140-8
关键词
hereditary inclusion body myopathy; quadriceps sparing myopathy; inflammation; GNE mutation
An adult-onset hereditary inclusion body myopathy with sparing of the quadriceps muscle was originally described in Iranian Jews and assigned to a locus on chromosome 9p12-p13. Recently, mutations of the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene were reported to cause hereditary inclusion body myopathy and one type of distal myopathy in a world-wide distribution. Importantly, the lack of muscle inflammation was used to distinguish hereditary inclusion body myopathy from the sporadic form of inclusion body myopathy. We report a case of a quadriceps-sparing myopathy in a non-Jewish, Iranian patient with a high degree of muscle inflammation. A novel homozygous G-to-A mutation (128933G --> A) in exon 7 changing a valine to isoleucine (V367I) in the epimerase domain of the GNE gene was found. We conclude that muscle inflammation is not sufficient to exclude the diagnosis of hereditary inclusion body myopathy. (C) 2003 Elsevier B.V. All rights reserved.
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