autosomal dominant Emery-Dreifuss muscular dystrophy 5

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2.

Signs and symptoms

• Centrally nucleated skeletal muscle fibers
• Elevated circulating creatine kinase activity
• Myopathy
• Scapular winging
• Respiratory insufficiency
• Increased variability in muscle fiber diameter
• Muscular dystrophy
• Arrhythmia
• Cardiomyopathy
• Proximal amyotrophy

Also known as: EDMD5; Emery-Dreifuss muscular dystrophy 5, autosomal dominant