Histological analysis of a patient with severe neonatal nemaline myopathy revealed moderate involvement of the diaphragm and mild involvement of intercostal muscles with core/targetoid structures.
Highlights respiratory muscle pathology in neonatal nemaline myopathy; single case leaves open prognostic and therapeutic implications.
The histological and histochemical findings in the respiratory muscles of a patient with severe neonatal nemaline myopathy are described. The patient suffered from frequent pneumonia associated with vomiting due to gastroesophageal reflux and died at 3 months from respiratory failure. The diaphragm was moderately involved and the intercostal muscles mildly involved. Core/targetoid structures were observed in the diaphragm and intercostal muscles.
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Tachi et al. (1992) studied this question.
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