Rippling Muscle Disease 1

Watchlist

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Retrieved

2019-09-22

Source

OMIM

Trials

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Genes

CAV3, FASN, DYSF, CDC42BPA, CHPT1, DHDDS

Drugs

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For a phenotypic description and a discussion of genetic heterogeneity of rippling muscle disease, see RMD2 (606072).

Mapping

In a 44-member pedigree segregating autosomal dominant RMD, Stephan et al. (1994) localized the responsible gene to the distal end of the long arm of chromosome 1 (maximum multipoint lod score of 3.56 at theta of 0.0) in a 12-cM region near D1S235.

Stephan and Hoffman (1999) constructed a physical map of the region of 1q containing the RMD1 locus. They also narrowed the critical genetic interval containing the RMD1 locus in their family from 12 to 3 cM. A YAC/BAC contig spanning the nonrecombinant interval containing the RMD1 locus was assembled by STS content mapping and database searches.