Conditions / Genetic
autosomal dominant Emery-Dreifuss muscular dystrophy 7
info · Genetic
An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1.
Signs and symptoms
- Proximal amyotrophy
- Proximal muscle weakness
- Neck muscle weakness
- Skeletal muscle atrophy
- Bradycardia
- Muscular dystrophy
- Atrial fibrillation
- Increased variability in muscle fiber diameter
Also known as: EDMD7; Emery-Dreifuss muscular dystrophy 7, autosomal dominant