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

• Main Authors: Ming-Xia Sun (Author), Miao Jing (Author), Ying Hua (Author), Jian-Biao Wang (Author), Sheng-Quan Wang (Author), Li-Lan Chen (Author), Liang Ju (Author), Yan-Shan Liu (Author)
• Formato: Livro
• Publicado em: BMC, 2024-02-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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,...