nemaline myopathy type 8
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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