Clinico‑genetic heterogeneity of chondrodysthrophic myotonia

Chondrodystrophic myotonia characterized by generalized myotonic myopathy, masklike face, skeletal dysplasia, contracture of joints,growth retardation and bone maturation delay. Two types have been defined by the age of manifestation of the symptoms: the severe neonatal form, sometimes called type 2...

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Bibliographic Details
Main Author: N. A. Shnayder
Format: Article
Language:Russian
Published: ABV-press 2015-02-01
Series:Нервно-мышечные болезни
Subjects:
Online Access:https://nmb.abvpress.ru/jour/article/view/77