Search
nemaline myopathy type 8
Pathology:
- skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils
Genetics:
- associated with defects in KLHL40
Clinical manifestations:
- severe form of nemaline myopathy
- fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, & dysphagia apparent at birth
- most patients die in infancy
General
nemaline myopathy (rod myopathy)
Database Correlations
OMIM 615348]
References
OMIM :accession 615348]