Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene

Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene

A description of the clinical and genetic characteristics of the syndrome of congenital contractures of the limbs and face in combination with muscular hypotonia and psychomotor retardation of 2 patients from Russia is presented. As a result of full-exome DNA sequencing, 2 heterozygous missense muta...

Full description

Saved in:
Bibliographic Details
Main Authors: A. O. Borovikov, I. V. Sharkova, O. P. Ryzhkova, A. L. Chukhrova, O. A. Schagina, T. V. Markova, E. L. Dadali
Format: Article
Language:Russian
Published: ABV-press 2019-04-01
Series:Нервно-мышечные болезни
Subjects:
syndrome of congenital contractures of the limbs and face in combination with muscular hypotonia and psychomotor retardation
autosomal dominant type of inheritance
nalcn gene
Online Access:https://nmb.abvpress.ru/jour/article/view/317
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items