1. Muscular dystrophies5. Other myopathies9. Metabolic myopathies13. Hereditary ataxias
2. Congenital muscular dystrophies6. Myotonic syndromes10. Hereditary cardiomyopathies14. Hereditary motor and sensory neuropathies
3. Congenital myopathies7. Ion channel muscle diseases11. Congenital myasthenic syndromes15. Hereditary paraplegias
4. Distal myopathies8. Malignant hyperthermia12. Spinal muscular atrophies motoneuron diseases16. Mitochondrial Myopathies
17. Other neuromuscular disorders

Grey lines background indicate newly added items
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)
* centronuclear myopathy, recessive
* minicore myopathy with external ophthalmoplegia
* myopathy, congenital, with fiber-type disproportion - CFTD
* Fetal akinesia deformation sequence related to RYR1
* Dusty core disease related to RYR1 - DuCD
* Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia - CMYP1A
* Congenital myopathy 1B, recessive - CMYP1B
* Malignant hyperthermia susceptibility 1 - MHS1
* Central core disease - CCD
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
* Hypokalemic periodic paralysis - CACNL1A3
* Congenital myopathy with ophthalmoplegia related to CACNA1S
* Malignant hyperthermia susceptibility 5 - MHS5
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1
Malignant hyperthermia susceptibility 6 - (AD)
8.6
9175745
? - (5p)
* Malignant hyperthermia susceptibility 6 - MHS6