| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Myotonic dystrophy 1 (Steinert) - (AD) | 6.1 | | | Myotonic dystrophy protein kinase
|
|
|  | * Myotonic dystrophy 1 - DM1 | | * Dystrophia myotonica - DM | | * Steinert disease - DM1 |
|
| Myotonic dystrophy type 2 (proximal myotonic myopathy) - (AD) | 6.2 | | | Cellular nucleic acid-binding protein
|
|
| | * Proximal myotonic myopathy - PROMM | | * Myotonic dystrophy, type 2 - DM2 |
|
| Myotonia, dominant (Thomsen disease) - (AD) | 6.3 | | | 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 | | | 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, dominant - (AD) | 6.5 | | | | * Rippling muscle disease, dominant - RMD1 |
|
| Rippling muscle disease, dominant - (AD) | 6.6 | | | | * Myopathy distal, Tateyama type - MPDT | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) | | * 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 | | | | * Myopathy distal, Tateyama type - MPDT | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) | | * Rippling muscle disease - RMD2 | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Hyperckemia, idiopathic |
|
| Schwartz-Jampel syndrome - (AR) | 6.8 | | | | * Schwartz-Jampel syndrome, type 1 - SJS1 | | * Dyssegmental dysplasia, Silverman-Handmaker type - DDSH |
|
| Brody disease - (AR AD) | 6.9 | | | ATPase, Ca++ transporting, fast twitch 1
|
|
| | * Brody disease - BROD |
|
