Familial "myotubular" myopathy.
D000328:Adult; D001706:Biopsy; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D004576:Electromyography; D005152:Facial Muscles / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology / Q000601:surgery; D009135:Muscular Diseases / Q000201:enzymology / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D009210:Myofibrils; D009333:Neck; D009801:Oculomotor Muscles / Q000473:pathology; D010375:Pedigree; D012018:Reflex; D012730:Sex Chromosomes
D003402:Creatine Kinase