myofibrillar myopathy 10

info · Genetic

A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23.

Signs and symptoms

Elevated circulating creatine kinase activity
Broad neck
Flexion contracture of finger
Postexertional symptom exacerbation
Muscle spasm
Increased circulating troponin I concentration
Percussion myotonia
Knee flexion contracture
Kyphosis
Left ventricular hypertrophy

Also known as: MFM10