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Nemaline myopathy in the neonate: two case reports
F Vendittelli1, C Manciet-Labarchède, B Gilbert-Dussardier
1Service de Gynécologie Obstétrique I, C.H.U de Limoges, France.
European Journal of Pediatrics
|June 1, 1996
Summary
Nemaline myopathy, typically mild, can rarely cause neonatal death. Diagnosis in infants relies on muscle biopsy, as family history may not be informative.
Area of Science:
- Pediatric Neurology
- Rare Genetic Disorders
Background:
- Nemaline myopathy is generally considered a mild neuromuscular disorder in older children and adults.
- However, rare instances of severe neonatal presentation with early mortality exist.