Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations.

ABSTRACT:

Objective

Duchenne muscular dystrophy (DMD) is an X-linked muscular dystrophy due to null mutations in the DMD gene that predominantly affects males, while heterozygous females are usually asymptomatic carriers. In approximately 10-20% of cases, they may present with muscle weakness and/or cardiomyopathy. We aimed to describe clinical and molecular characteristics of DMD heterozygous females.

Methods

A monocentric, observational, and cross-sectional study was designed. Clinical and molecular data were collected along with, when available, muscle biopsies. The pattern of X inactivation was determined in peripheral blood and the genotypes at SPP1, LTBP4 and CD40 modifier genes were established.

Results

We recruited 47 participants: 27 (57%) were asymptomatic and 20 (43%

SUBMITTER: Riguzzi P 

PROVIDER: S-EPMC11880153 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature