Conditions / Genetic
nemaline myopathy 7
info · Genetic
A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.
Signs and symptoms
- Hypotonia
- Limb muscle weakness
- Motor delay
- Gowers sign
- Lower limb muscle weakness
- Type 1 muscle fiber predominance
- Frequent falls
- Minicore myopathy
- Muscle weakness
- Shoulder girdle muscle weakness
Also known as: NEM7; nemaline myopathy 7, autosomal recessive