Conditions / Genetic
nemaline myopathy 11
info · Genetic
A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21.
Signs and symptoms
- Type 1 muscle fiber predominance
- Muscle weakness
- Nemaline bodies
- High palate
- Facial palsy
- Reduced vital capacity
- Cardiomyopathy
- Waddling gait
- Talipes equinovarus
- Pes cavus
Also known as: NEM11; congenital myopathy 24; nemaline myopathy 11, autosomal recessive