distal myopathy Tateyama type

A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

Signs and symptoms

• Centrally nucleated skeletal muscle fibers
• Elevated circulating aspartate aminotransferase concentration
• Elevated circulating creatine kinase activity
• Hand muscle weakness
• Myopathy
• Increased circulating lactate dehydrogenase concentration
• Type 1 muscle fiber predominance
• Intrinsic hand muscle atrophy
• Palpitations
• Increased variability in muscle fiber diameter

Also known as: distal muscular dystrophy Tateyama type