title: Severe neonatal nemaline myopathy--histological and histochemical studies of respiratory muscles.
abstract: 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.
authors.affiliation: Department of Pediatrics, Sapporo Medical College, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: S
authors.initials: S
authors.lastname: Wakai
authors.forename: Y
authors.initials: Y
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Kurosawa
authors.forename: Y
authors.initials: Y
authors.lastname: Agatsuma
authors.forename: S
authors.initials: S
authors.lastname: Chiba
mesh_terms: D015897:Comorbidity; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D008297:Male; D009123:Muscle Hypotonia / Q000401:mortality / Q000503:physiopathology; D012120:Respiration Disorders / Q000209:etiology / Q000401:mortality / Q000503:physiopathology*; D012131:Respiratory Insufficiency / Q000401:mortality*; D012132:Respiratory Muscles / Q000473:pathology* / Q000648:ultrastructure