Gene table: search width pubmed_id = 12666119


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Rippling muscle disease, recessive - (AR)
6.7
12666119
15668980
CAV3 (3p25.3)
Caveolin 3
* 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