New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case)

New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case)

Congenital muscular dystrophies are heterogeneous groups of neuromuscular diseases leading to hypotonia, progressive muscle weakness and dystrophic or structural signs in muscle biopsy. At the present time, 34 genes associated with congenital muscular dystrophy have been described. The clinical case...

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Bibliographic Details
Main Authors: T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, M. Yu. Shorina, I. F. Demenshin, G. G. Prokopiev, I. V. Kanivets, V. S. Suchorukov, P. L. Anufriev, T. I. Baranich, A. A. Kozina, A. G. Prityko
Format: Article
Language:Russian
Published: ABV-press 2021-12-01
Series:Нервно-мышечные болезни
Subjects:
congenital muscular dystrophy
trip4 gene
muscle hypotonia
respiratory failure
contractures
Online Access:https://nmb.abvpress.ru/jour/article/view/462
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