Conditions / Genetic
nemaline myopathy 10
info · Genetic
A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.
Signs and symptoms
- Facial palsy
- Generalized muscle weakness
- Bulbar palsy
- Feeding difficulties
- Severe muscular hypotonia
- Generalized hypotonia
- Fatty replacement of skeletal muscle
- Respiratory insufficiency due to muscle weakness
- Muscle weakness
- Nemaline bodies
Also known as: NEM10; congenital myopathy 10