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. Motor neuron diseases16. 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
Myotonic, dystrophy (Steinert) - (AD)
6.1
1346923
1346924
1346925
1546325
1546326
1568252
2881880
5149523
DMPK (19q13.3)
Myotonic dystrophy protein kinase
* Myotonic dystrophy 1 - DM1
* Dystrophia myotonica - DM
* Steinert disease - DM1
Myotonic dystrophy type 2 - (AD)
6.2
11486088
9620781
CNBP (3q21.3)
Cellular nucleic acid-binding protein
* Proximal myotonic myopathy - PROMM
* Myotonic dystrophy, type 2 - DM2
Myotonia, dominant (Thomsen disease) - (AD)
6.3
1379744
2722193
7981750
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
* Myotonia recessive - CLC1
* Myotonia congenita, autosomal dominant, Thomsen disease - THD
* Myotonia congenita, autosomal recessive, Becker disease - MCR
Myotonia, recessive (Becker disease) - (AR)
6.4
1379744
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
* Myotonia recessive - CLC1
* Myotonia congenita, autosomal dominant, Thomsen disease - THD
* Myotonia congenita, autosomal recessive, Becker disease - MCR
Rippling muscle disease - (AD)
6.5
7936247
? - (1q41)
* Rippling muscle disease - RMD1
Rippling muscle disease - (AD)
6.6
11431690
7936247
CAV3 (3p25)
Caveolin 3
* Distal myopathy related to caveolin
* cardiomyopathy, familial hypertrophic - CMH
* Creatine phosphokinase, elevated serum - CPK
* Rippling muscle disease - RMD2
* Long QT syndrome 9 - LQT9
* Muscular dystrophy, limb-girdle, type IC - LGMD1C
* Hyperckemia, idiopathic
Rippling muscle disease, recessive - (AR)
6.7
12666119
15668980
CAV3 (3p25)
Caveolin 3
* Distal myopathy related to caveolin
* cardiomyopathy, familial hypertrophic - CMH
* Creatine phosphokinase, elevated serum - CPK
* Rippling muscle disease - RMD2
* Long QT syndrome 9 - LQT9
* Muscular dystrophy, limb-girdle, type IC - LGMD1C
* Hyperckemia, idiopathic
Schwartz-Jampel syndrome - (AR)
6.8
8541852
HSPG2 (1p36.1-p34)
Perlecan
* Schwartz-Jampel syndrome, type 1 - SJS1
* Dyssegmental dysplasia, Silverman-Handmaker type - DDSH
Brody disease - (AR AD)
6.9
8841193
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1
* Brody myopathy - ATP2A1