title: Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression.
abstract: We report two families both presenting with malignant hyperthermia susceptibility and "core" or "core-like" changes in the muscle tissue. Combined analysis of the malignant hyperthermia phenotype and the histochemical findings demonstrates the complexity of their association and highly suggests genetic heterogeneity of malignant hyperthermia and central core diseases.
authors.affiliation: Laboratoire de Pathologie Musculaire, Hôpital Robert Debré, Paris, France.
authors.forename: N B
authors.initials: NB
authors.lastname: Romero
authors.forename: Y
authors.initials: Y
authors.lastname: Nivoche
authors.forename: J
authors.initials: J
authors.lastname: Lunardi
authors.forename: B
authors.initials: B
authors.lastname: Bruneau
authors.forename: M A
authors.initials: MA
authors.lastname: Cheval
authors.forename: D
authors.initials: D
authors.lastname: Hillaire
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D002675:Child, Preschool; D002888:Chromosomes, Human, Pair 19; D004247:DNA / Q000032:analysis; D004198:Disease Susceptibility; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D004247:DNA