Central core disease and susceptibility to malignant hyperthermia in a single family

J Neurol. 2009 Jul;256(7):1161-3. doi: 10.1007/s00415-009-5051-4. Epub 2009 Feb 28.

Authors

Lara Colleoni, Giorgia Melli, Lucia Morandi, Paola Cudia, Stefania Romaggi, Renato Mantegazza, Pia Bernasconi

PMID: 19252784
DOI: 10.1007/s00415-009-5051-4

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
DNA Mutational Analysis
Family Health
Female
Genetic Counseling
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics*
Humans
Inheritance Patterns / genetics
Italy
Malignant Hyperthermia / genetics*
Malignant Hyperthermia / physiopathology
Muscle Fibers, Skeletal / metabolism
Muscle Fibers, Skeletal / pathology
Muscle, Skeletal / metabolism
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Mutation / genetics
Myopathy, Central Core / complications*
Myopathy, Central Core / genetics*
Myopathy, Central Core / physiopathology
Pedigree
Phenotype
Risk Factors
Ryanodine Receptor Calcium Release Channel / genetics*
Siblings

Substances

Genetic Markers
Ryanodine Receptor Calcium Release Channel