Conditions / Genetic
autosomal dominant hyaline body myopathy
info · Genetic
A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.
Signs and symptoms
- Shoulder girdle muscle weakness
- EMG: myopathic abnormalities
- Scapular winging
- Scapuloperoneal amyotrophy
- Calf muscle pseudohypertrophy
- Type 1 muscle fiber predominance
- Scapuloperoneal weakness
- Muscle weakness
- Generalized muscle weakness
- Centrally nucleated skeletal muscle fibers
Also known as: MSMA; Myopathy, myosin storage, autosomal dominant; autosomal dominant myosin storage congenital myopathy 7A; congenital myopathy 7A; myopathy with lysis of type I myofibrils