两例同胞患贝克尔先天性肌强直变异型的临床遗传学研究
Becker's variant of myotonia congenita in two siblings--a clinico-genetic study.
作者信息
Bhattacharyya Kalyan B, Sengupta P, Basu S, Bhattacharya N P
机构信息
Department of Neurology, Calcutta National Medical College and Hospital, 24 Gorachand Road, Calcutta 700014, India.
出版信息
Neurol India. 2004 Sep;52(3):363-4.
PMID:15472428
Abstract
We report a family of a brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker's variety). To the best of our knowledge, no account of a family of autosomal recessive myotonia (Becker's disease), has earlier been reported from India.
摘要
我们报告了一个先天性肌强直的兄妹家族，符合常染色体隐性遗传（贝克尔型）。据我们所知，此前印度尚未有常染色体隐性肌强直（贝克尔病）家族的报道。
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