tubular aggregate myopathy 1

info · Genetic

A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15.

Signs and symptoms

Elevated circulating creatine kinase activity
Type 2 muscle fiber atrophy
Proximal muscle weakness
Type 1 muscle fiber predominance
Joint contracture
Muscle stiffness
Myopathy
Muscle spasm
Difficulty running
Weakness of the intrinsic hand muscles