Rippling Muscle Syndromes

Autosomal DominantAutosomal RecessiveVariableIon Channels / MembraneOMIM 600332

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Overview

From WUSTL Neuromuscular

Acquired Hereditary Dominant RMD1: 1q41 RMD2: Caveolin-3; 3p25 Lipodystrophy (CGL4): Cavin; 17q21 Recessive Omani RMR: Caveolin-3; 3p25 Rippling Muscles Rippling Muscle Syndromes: Hereditary, Dominant ● ● ●9 Epidemiology Most families: CAV3 mutation 1 family: 1q41 linkage CAV3 Genetics Caveolin-3 mutations: Missense R26Q: AD-RMD; HyperCKemia Asp27Glu: Variable phenotype, AD-RMD; Distal weakness; LGMD & Intrafamilial variation A45T: AD-RMD & HyperCKemia with muscle discomfort Ala45Val: AD-RMD A46T: AD-RMD; Benign & Non-progressive; Normal strength 40 Ser52Gly: Rippling muscle disease F97del: Va

OMIM Entries

OMIM #600332 OMIM #606072 OMIM #601253 OMIM #123320 OMIM #614321 OMIM #192600 OMIM #611818

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.