一个患有常染色体隐性遗传性全身性肌强直且外貌如赫拉克勒斯般强壮的家族。
A family with autosomal recessive generalised myotonia with Herculean appearance.
作者信息
Sinha M K, Chaurasia R N, Verma R
机构信息
Department of Neurology, Chhatrapati Shahuji Maharaj Medical University, Lucknow, U.P., India.
出版信息
J Assoc Physicians India. 2011 Feb;59:120-2.
PMID:21751653
Abstract
A 28-year-old male had history of stiffness in limb muscles, with hypertrophy of most muscle groups and both action and percussion myotonia. We report a very interesting rare family of brothers and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker's variety) with Herculean appearance.
摘要
一名28岁男性有肢体肌肉僵硬病史，多数肌群肥大，存在动作性和叩击性肌强直。我们报告了一个非常有趣的先天性肌强直的罕见家族，该家族的兄弟姐妹符合常染色体隐性遗传（贝克尔型），且外貌强壮。
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