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GENATLAS PHENOTYPE

last update : 25-02-2009

Symbol	RMD2
Location	3p25
Name	rippling muscle disease 2
Other name(s)	caveolin 3 deficiency limb-girdle muscular dystrophy
Corresponding gene	CAV3
Other symbol(s)	RMD
Main clinical features	increased muscle irritability and/or electrically silent muscle contractions (rippling muscle)
Genetic determination	autosomal dominant
	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	caveolin 3

Remark(s)

Genotype/Phenotype correlations

caveolin-3 deficiency or caveolinopathies includes five phenotypes, which can be seen in different members of the same family: Limb-Girdle Muscular Dystrophy 1C [LGMD1C, MIM : 607801] CAV3-Related Isolated HyperCKemia [MIM : 123320], CAV3-Related Rippling Muscle Disease [RMD, MIM : 606072], CAV3-Related Distal Myopathy, CAV3-Related Hypertrophic Cardiomyopathy [CMH, MIM : 192600]