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GTR Home > Conditions/Phenotypes > Rippling muscle disease 2

Rippling muscle disease 2

Synonyms
CAV3-Related Rippling Muscle Disease; Limb-girdle muscular dystrophy, type 1C

Summary

Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples to move over the muscle. RMD is usually inherited as an autosomal dominant trait, but autosomal recessive inheritance has also been reported (Kubisch et al., 2005). Genetic Heterogeneity of Rippling Muscle Disease Another locus for RMD, designated RMD1 (600332), maps to chromosome 1q41. [from OMIM]

Available tests

91 tests are in the database for this condition.

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Clinical tests (91 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LGMD1C, LQT9, MPDT, RMD2, VIP-21, VIP21, CAV3
    Summary: caveolin 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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