Becker's variant of myotonia congenita in two siblings--a clinico-genetic study.
نویسندگان
چکیده
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.
منابع مشابه
Myotonia congenita (Becker's variant).
A 21 year old right handed male resident of Bihar presented with 4 years history of gradual onset progressive st i f fness in both thighs and calves which improves on continued activity along with hypertrophy of muscles of all the limbs and dimpling on hitting over thigh and hands. He also has history of inability to walk fast or run and delayed opening of left eye after forceful closure of bot...
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INTRODUCTION Myotonia Congenita is an inherited myotonia that is due to a mutation in the skeletal muscle chloride channel CLCN1. These mutations lead to reduced sarcolemmal chloride conductance, causing delayed muscle relaxation that is evident as clinical and electrical myotonia. METHODS We report the clinical presentations of two individuals with Myotonia Congenita (MC). RESULTS Patient ...
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ورودعنوان ژورنال:
- Neurology India
دوره 52 3 شماره
صفحات -
تاریخ انتشار 2004