Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression

N B Romero; Y Nivoche; J Lunardi; B Bruneau; M A Cheval; D Hillaire; M Fardeau

doi:10.1016/0960-8966(93)90113-x

Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression

Neuromuscul Disord. 1993 Sep-Nov;3(5-6):547-51. doi: 10.1016/0960-8966(93)90113-x.

Authors

N B Romero¹, Y Nivoche, J Lunardi, B Bruneau, M A Cheval, D Hillaire, M Fardeau

Affiliation

¹ Laboratoire de Pathologie Musculaire, Hôpital Robert Debré, Paris, France.

PMID: 8186709
DOI: 10.1016/0960-8966(93)90113-x

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Biopsy
Child, Preschool
Chromosomes, Human, Pair 19*
DNA / analysis
Disease Susceptibility
Female
Genetic Linkage
Humans
Male
Malignant Hyperthermia / complications
Malignant Hyperthermia / genetics*
Malignant Hyperthermia / pathology
Middle Aged
Muscles / pathology*
Muscular Diseases / complications
Muscular Diseases / genetics*
Muscular Diseases / pathology
Pedigree

Substances

DNA