Familial myotubular myopathy: a clinical, pathological, histochemical, and ultrastructural study.
D000293:Adolescent; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000201:enzymology*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*