Fatal neonatal nemaline myopathy: a case report.
A fatal neonatal nemaline myopathy in a Japanese girl was described. The patient was hypotonic at birth and failed to establish effective respiration. Rod-like structures were observed within a variety of skeletal muscles, particularly in the diaphragm. This is the first case of fatal neonatal nemaline myopathy in which many satellite cells were observed.
D001706:Biopsy; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007231:Infant, Newborn; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000473:pathology*; D012127:Respiratory Distress Syndrome, Newborn / Q000473:pathology*