Differential diagnosis of myopathy and multiple epiphysal dysplasia caused by mutations in the <i>COMP</i> gene in children

Differential diagnosis of myopathy and multiple epiphysal dysplasia caused by mutations in the <i>COMP</i> gene in children

Background. Multiple epiphysal dysplasia (MED) type 1 (OMIM: 132400) is one of 7 genetic variants of this group of skeletal dysplasias described to date. The disease is caused by mutations in the COMP gene located on chromosome 19p13.1. The presence of muscle hypotonia and ligamentous laxity, as wel...

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Main Authors: T. V. Markova, V. M. Kenis, S. S. Nikitin, E. V. Melchenko, T. S. Nagornova, D. V. Osipova, A. E. Alieva, Ya. S. Yugeno, E. Yu. Zakharova, E. L. Dadali
Format: Article
Language:Russian
Published: ABV-press 2022-06-01
Series:Нервно-мышечные болезни
Subjects:
gene <i>comp</i>
multiple epiphysal dysplasia
myopathy
Online Access:https://nmb.abvpress.ru/jour/article/view/487
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