Key result
In females with heterozygous Duchenne muscular dystrophy mutations, 43% manifested skeletal muscle symptoms and 20% showed cardiac involvement, with no significant correlation found between X-chromosome inactivation pattern and clinical severity.
Why the study?
Heterozygous DMD females can present with muscle weakness and/or cardiomyopathy in 10-20% of cases, prompting the need to describe their clinical and molecular characteristics.
Population
47 females heterozygous for DMD mutations (27 asymptomatic, 20 symptomatic)
Design
Monocentric observational cross-sectional study
Authors
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X-inactivation patterns should not guide cardiac risk assessment in DMD carriers; hypothesis-generating for multifactorial phenotype modifiers.
Cross-Sectional (n=47)
No
p-value: p=0.16
In females heterozygous for DMD mutations, clinical severity and cardiac involvement do not correlate with X-chromosome inactivation patterns or dystrophin amount, suggesting multiple mechanisms influence the phenotype.
Riguzzi et al. (2025) conducted a cross-sectional in Heterozygous Duchenne muscular dystrophy (DMD) mutations (n=47). Heterozygous Duchenne muscular dystrophy mutations was evaluated on Association between X-chromosome inactivation pattern and clinical severity (p=0.16). In females with heterozygous Duchenne muscular dystrophy mutations, 43% manifested skeletal muscle symptoms and 20% showed cardiac involvement, with no significant correlation found between X-chromosome inactivation pattern and clinical severity.
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