X-linked neonatal myotubular myopathy.
We have described a family with X-linked myotubular myopathy that was clinically manifest in the neonatal period and compared it with the clinical picture and course of the disease in similar reported cases. Clinical expression of the disease in the newborn period is not always lethal. Despite a fatal outcome in the family reported here, a review of the literature indicates that aggressive treatment of short-term respiratory insufficiency at birth is justified.
D000328:Adult; D001238:Asphyxia Neonatorum / Q000209:etiology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D014960:X Chromosome