Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.

Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscle disease, characterized by the clinical triade of early-onset joint contractures, progressive muscle weakness, and cardiac involvement. Pathogenic variants in FHL1 can cause a rare X-linked recessive form of EDMD, type 6. We report three men with novel variants in FHL1 leading to EDMD6.

Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants.

To explore fat replacement, muscle strength, and clinical features in women heterozygous for a pathogenic variant, we prospectively examined 53 women, assuming that some of these women-despite of the recessive X-linked inheritance-manifested clinical symptoms. We performed a cross-sectional observational study using MRI and stationary dynamometry of lower extremities, extracted blood muscle biomarkers, and investigated subjective complaints. Results were compared with 19 healthy women.

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants.

To determine the frequency and extent of cardiac involvement in female carriers of pathogenic variants in , 53 women were examined through an observational, cross-sectional study. Genetically verified female carriers of pathogenic variants were examined by cardiac magnetic resonance imaging (CMR) with late gadolinium enhancement, echocardiography, 24-h Holter monitoring, ECG, and blood concentrations of skeletal and cardiac muscle biomarkers. Fifty-three female carriers of pathogenic variants (mean age 49.