Central core disease associated with elevated creatine phosphokinase levels. Two members of a family known to be susceptible to malignant hyperpyrexia.
D008058:Dihydrolipoamide Dehydrogenase / Q000032:analysis; D005260:Female; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008854:Microscopy, Electron; D009132:Muscles / Q000201:enzymology / Q000473:pathology*; D009139:Musculoskeletal Abnormalities; D009469:Neuromuscular Junction / Q000473:pathology
D008058:Dihydrolipoamide Dehydrogenase