Central core disease and susceptibility to malignant hyperthermia in a single family. [electronic resource]
Producer: 20091009Description: 1161-3 p. digitalISSN:- 1432-1459
- 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
- Muscle Fibers, Skeletal -- metabolism
- Muscle, Skeletal -- metabolism
- Mutation -- genetics
- Myopathy, Central Core -- complications
- Pedigree
- Phenotype
- Risk Factors
- Ryanodine Receptor Calcium Release Channel -- genetics
- Siblings
No physical items for this record
Publication Type: Case Reports; Letter
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