Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

Abstract Introduction Ullrich congenital muscular dystrophy (UCMD) is a severe form of inherited muscle weakness at birth. Recent genetic studies discovered that different gene mutations are responsible for UCMD clinical manifestation. Case report In this study, we carried out whole exome sequencing...

Full description

Bibliographic Details
Main Authors: Elaheh Nekouei, Elmira Shokrolahi Yancheshmeh, Javad Mohammadi-Asl, Zafar Maasoumi Moghaddam
Format: Article
Language:English
Published: SpringerOpen 2022-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Col6α1 gene
Ullrich congenital muscular dystrophy
Mutation
Online Access:https://doi.org/10.1186/s43042-022-00372-z

Internet

https://doi.org/10.1186/s43042-022-00372-z

Similar Items