Recessively inherited myotonia congenita.
نویسندگان
چکیده
منابع مشابه
Myotonic Diseases since
Julius thomsen first published his account of myotonia (an unusual muscle stiffness disorder) in himself and his family in 1876. By november 1971, Peter Becker was already famous for his eponymous Becker muscular dystrophy when he came to the second international congress on Muscle Diseases, in Perth. there, he presented an extensive study of myotonia, recognising a recessively inherited diseas...
متن کاملNovel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports
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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Autosomal-dominantly inherited nondystrophic myotonic disorders are an interesting group of muscle diseases that provide considerable opportunity for future molecular genetic studies to identify the genes responsible for specific membrane functions. A family with such a myotonic disorder is described with features that are distinctly different from myotonia congenita and paramyotonia congenita....
متن کاملMyotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels
Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion. One hypothesis for myotonia congenita is that the inheritance pattern of the disease is determined by the functional consequence of the mutation on the gat...
متن کاملMolecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations.
The muscle Cl- channel, ClC-1, is a member of the ClC family of voltage-gated Cl- channels. Mutations in CLCN1, the gene encoding this channel, cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). The functional characterization of these naturally occurring mutations not only allowed a better understanding of the...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 9 2 شماره
صفحات -
تاریخ انتشار 1972