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 | | | myotonic dystrophy protein kinase
|
|
|  | * Dystrophia myotonica - DM | | * Myotonic dystrophy 1 - DM1 | | * Steinert disease - DM1 |
|
| Myotonic dystrophy type 2 - (AD) | 6.2 | | | | * Myotonic dystrophy, type 2 - DM2 | | * Proximal myotonic myopathy - PROMM |
|
| Myotonia, dominant (Thomsen disease) - (AD) | 6.3 | | | chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
|
|
| | * Myotonia congenita, autosomal dominant, Thomsen disease - THD | | * Myotonia congenita, autosomal recessive, Becker disease - MCR | | * Myotonia recessive - CLC1 |
|
| Myotonia, recessive (Becker disease) - (AR) | 6.4 | | | chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
|
|
| | * Myotonia congenita, autosomal dominant, Thomsen disease - THD | | * Myotonia congenita, autosomal recessive, Becker disease - MCR | | * Myotonia recessive - CLC1 |
|
| Rippling muscle disease - (AD) | 6.5 | | | | * Rippling muscle disease - RMD1 |
|
| Rippling muscle disease - (AD) | 6.6 | | | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Distal myopathy with caveolin defect | | * Hyperckemia, idiopathic | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Rippling muscle disease - RMD2 |
|
| Rippling muscle disease, recessive - (AR) | 6.7 | | | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Distal myopathy with caveolin defect | | * Hyperckemia, idiopathic | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Rippling muscle disease - RMD2 |
|
| Schwartz-Jampel syndrome - (AR) | 6.8 | | | | * Dyssegmental dysplasia, Silverman-Handmaker type - DDSH | | * Schwartz-Jampel syndrome, type 1 - SJS1 |
|
| Brody disease - (AR AD) | 6.9 | | | ATPase, Ca++ transporting, fast twitch 1
|
|
| | * Brody myopathy - ATP2A1 |
|
