title: Heterogeneity of nemaline myopathy. A follow-up study of 13 cases.
abstract: The marked heterogeneity of nemaline myopathy is again shown in the present series of 13 patients. Most children have a long-standing, mild, and slowly progressing proximal myopathy. Two brothers with extreme weakness died during the neonatal period of respiratory failure representing the X-linked variant. One adult with proximal weakness was also diagnosed as having nemaline myopathy. An unusual course was observed in 2 infants who initially had moderate weakness but subsequently developed severe generalized weakness including respiratory muscles. This led to irreversible respiratory failure requiring continuous ventilatory support for as long as 9 and 15 years, respectively. Although uncommon, the possibility of an imminent respiratory failure in initially weak infants should also be taken into account within the clinical spectrum of nemaline myopathy.
authors.affiliation: Child Neurology Unit, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Shahar
authors.forename: R C
authors.initials: RC
authors.lastname: Tervo
authors.forename: E G
authors.initials: EG
authors.lastname: Murphy
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008124:Locomotion; D008297:Male; D009135:Muscular Diseases / Q000151:congenital / Q000175:diagnosis / Q000503:physiopathology*