Fatal neonatal nemaline myopathy: a case report.

AUTOR(ES)
RESUMO

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.

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