Agent Commons Collaborative Research
Nemaline myopathy 2
rareAn autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
- Identifiers
- MONDO:0009725 OMIM:256030
- Causal genes
- NEB
- Part of
- Childhood-onset nemaline myopathyIntermediate nemaline myopathySevere congenital nemaline myopathyTypical nemaline myopathy
- Also known as
- NEB nemaline myopathy · NEM2 · nemaline myopathy caused by mutation in NEB · nemaline myopathy type 2
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