title: Malignant hyperthermia susceptibility without central core disease (CCD) in a family where CCD is diagnosed.
abstract: Central Core Disease (CCD) is a myopathy closely linked to malignant hyperthermia (MH) susceptibility. We present a family with a girl suffering from CCD. Due to the CCD diagnosis, all available relatives were investigated for MH-susceptibility. No other family member has CCD. In vitro contracture tests revealed that several relatives are MH-susceptible. Thus our results suggest that healthy members of families with CCD could be at risk for being malignant hyperthermia susceptible.
authors.affiliation: Department of Anaesthesiology, University Hospital, Lund, Sweden.
authors.forename: G
authors.initials: G
authors.lastname: Islander
authors.forename: K G
authors.initials: KG
authors.lastname: Henriksson
authors.forename: E
authors.initials: E
authors.lastname: Ranklev-Twetman
mesh_terms: D002648:Child; D004198:Disease Susceptibility; D005260:Female; D006651:Histocytochemistry; D006652:Histological Techniques; D006801:Humans; D008305:Malignant Hyperthermia / Q000150:complications* / Q000235:genetics*; D009132:Muscles / Q000737:chemistry / Q000473:pathology; D017696:Myopathies, Nemaline / Q000150:complications* / Q000235:genetics*; D010375:Pedigree