Conditions / Genetic
nemaline myopathy 2
info · Genetic
A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23.
Signs and symptoms
- Weakness of facial musculature
- Foot dorsiflexor weakness
- Myopathic facies
- Nemaline bodies
- Inability to walk
- Mitochondrial depletion
- Flexion contracture
- Hypertelorism
- Hyperlordosis
- Proximal muscle weakness
Also known as: NEM2; congenital myopathy 2; nemaline myopathy 2, autosomal recessive