1. Muscular dystrophies 5. Other myopathies 9. Metabolic myopathies 13. Hereditary ataxias
2. Congenital muscular dystrophies 6. Myotonic syndromes 10. Hereditary cardiomyopathies 14. Hereditary motor and sensory neuropathies
3. Congenital myopathies 7. Ion channel muscle diseases 11. Congenital myasthenic syndromes 15. Hereditary paraplegias
4. Distal myopathies 8. Malignant hyperthermia 12. Motor neuron diseases 16. Other neuromuscular disorders

8. Malignant hyperthermia (See references)

Disease phenotype
Item in this table
Key references
Gene symbol (chromosome)
protein
All allelic disease phenotypes - locus/disease symbols
Malignant hyperthermia susceptibility 1 - (AD)
8.1
1354642
1774074
1862346
1967823
2300206
7849712
8012359
8220423
RYR1 (19q13.1)
ryanodine receptor 1 (skeletal)
* Central core disease - CCD
* centronuclear myopathy, recessive
* Malignant hyperthermia susceptibility 1 - MHS1
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
Malignant hyperthermia susceptibility 2 - (AD)
8.2
1427885
9508059
? - (17q11.2-q24)
* Malignant hyperthermia susceptibility 2 - MHS2
Malignant hyperthermia susceptibility 3 - (AD)
8.3
7951247
? - (7q21-q22)
* Malignant hyperthermia susceptibility 3 - MHS3
Malignant hyperthermia susceptibility 4 - (AD)
8.4
8395939
? - (3q13.1)
* Malignant hyperthermia susceptibility 4 - MHS4
Malignant hyperthermia susceptibility 5 - (AD)
8.5
9199552
CACNA1S (1q32)
calcium channel, voltage-dependent, L type, alpha 1S subunit
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1
* Hypokalemic periodic paralysis - CACNL1A3
* Malignant hyperthermia susceptibility 5 - MHS5
Malignant hyperthermia susceptibility 6 - (AD)
8.6
9175745
? - (5p)
* Malignant hyperthermia susceptibility 6 - MHS6