Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the <i>MYH8</i> gene

Distal arthrogryposis is a group of genetically heterogeneous congenital diseases characterized by non-progressive contractures predominantly distal joints of the upper and lower extremities. 11 genes have been identified as pathogenic variants causing the occurrence of autosomal dominant and autoso...

Full description

Saved in:
Bibliographic Details
Main Authors: I. V. Sharkova, S. S. Nikitin, T. V. Markova, A. E. Voskanyan, E. A. Melnik, O. A. Shchagina, E. L. Dadali
Format: Article
Language:Russian
Published: ABV-press 2023-10-01
Series:Нервно-мышечные болезни
Subjects:
Online Access:https://nmb.abvpress.ru/jour/article/view/561
Tags: Add Tag
No Tags, Be the first to tag this record!