Conditions / Genetic
congenital myopathy 27
info · Genetic
A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11.
Signs and symptoms
- Elevated circulating creatine kinase activity
- Easy fatigability
- Malaise
- Elevated circulating CK-MB concentration
- Chronic constipation
- Increased variability in muscle fiber diameter
- Exercise intolerance
- Elevated circulating aspartate aminotransferase concentration
- Elevated circulating alanine aminotransferase concentration
- Centrally nucleated skeletal muscle fibers