Gene table: search width pubmed_id = 9537420


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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 2 - (AD)
1.23
9536092
9537420
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