1999年12月
Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia
NEUROMUSCULAR DISORDERS
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- 巻
- 9
- 号
- 8
- 開始ページ
- 587
- 終了ページ
- 592
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- 出版者・発行元
- PERGAMON-ELSEVIER SCIENCE LTD
We investigated the skeletal muscle voltage-gated chloride channel gene (CLCN1) in two unrelated Japanese patients with Becker's myotonia congenita. The non-myotonic parents of each patient were consanguineous. The proband of each family shares generalized myotonia, transient weakness after rest, and leg muscle hypertrophy. However, the disease severity related to the degree of myotonia differed, even in view of the response to long train nerve stimulation tests. CLCN1 gene analysis revealed a novel Ala659Val missense mutation identified to be homozygous in the more severe patient, while a novel Gln445Stop nonsense mutation was present in the other patient. Both mutations were absent in 90 Japanese normal controls. This is the first report of Japanese cases of Becker's myotonia congenita with CLCN1 gene mutations. (C) 1999 Elsevier Science B.V. All rights reserved.
- リンク情報
- ID情報
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- ISSN : 0960-8966
- Web of Science ID : WOS:000084281200007