A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family

A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family

Abstract Objective To analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random X-chromosome inactivation in a large pedigree with pseudohypertrophic muscular dystrophy. Methods Clinical information of the female proband,...

Full description

Bibliographic Details
Main Authors: Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju, Yan-Shan Liu
Format: Article
Language:English
Published: BMC 2024-02-01
Series:BMC Medical Genomics
Subjects:
DMD
Manifesting carrier
Novel mutation
X-chromosome inactivation
Online Access:https://doi.org/10.1186/s12920-024-01794-x

Internet

https://doi.org/10.1186/s12920-024-01794-x

Similar Items