Typical nemaline myopathy
ORPHA:171436· ICD-10 G71.2
Definition
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal