A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita

A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita

Myotonia congenital (MC) is the most common form of the hereditary nondystrophic myotonias caused by mutations in the skeletal muscle chloride channel gene (CLCN1) which change the functional features of muscle fibers membrane. MC is represented by two allelic forms with different types of inheritan...

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Bibliographic Details
Main Authors: S. A. Kurbatov, S. S. Nikitin, S. N. Illarioshkin, P. Gundorova, A. V. Polyakov
Format: Article
Language:Russian
Published: ABV-press 2016-03-01
Series:Nervno-Myšečnye Bolezni
Subjects:
inherited myotonia, thomsen’s disease, becker’s disease, clcn1 gene, pseudodominant type of inheritance, nondystrophic myotonia, myotonic discharges, short exercise test, m-wave decrement
Online Access:https://nmb.abvpress.ru/jour/article/view/140

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https://nmb.abvpress.ru/jour/article/view/140

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