Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression.
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.
Romero
N B
NB
Laboratoire de Pathologie Musculaire, Hôpital Robert Debré, Paris, France.
Nivoche
Y
Y
Lunardi
J
J
Bruneau
B
B
Cheval
M A
MA
Hillaire
D
D
Fardeau
M
M
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
D004247:DNA