This case report describes the first instance of fatal neonatal nemaline myopathy featuring many satellite cells.
May expand pathologic spectrum of fatal neonatal nemaline myopathy; leaves open satellite cell role pending confirmation in larger cohorts.
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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Tsujihata et al. (1983) studied this question.
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