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Typical nemaline myopathy
rareTypical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
- Identifiers
- MONDO:0015737 Orphanet:171436
- Part of
- Congenital nervous system disorderHereditary neurological diseaseNemaline myopathyNeuromuscular disease caused by qualitative or quantitative defects of alpha-actinNeuromuscular disease caused by qualitative or quantitative defects of nebulinNeuromuscular disease caused by qualitative or quantitative defects of tropomyosin
- Also known as
- typical congenital nemaline myopathy
Subtypes
Rare disease
Projects
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