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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

R C Betz1, B G Schoser, D Kasper

  • 1Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany.

Nature Genetics
|June 30, 2001
PubMed

Insights

Hereditary rippling muscle disease (RMD) is linked to mutations in the CAV3 gene. This finding demonstrates that both dystrophic and non-dystrophic muscle disorders can share genetic causes.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Hereditary rippling muscle disease (RMD) is an autosomal dominant disorder.
  • RMD is characterized by mechanically triggered skeletal muscle contractions.

Purpose of the Study:

  • To identify the genetic cause of Hereditary Rippling Muscle Disease (RMD).
  • To investigate the role of the CAV3 gene in RMD.

Main Methods:

  • Genome-wide linkage analysis was performed to identify the RMD locus.
  • Positional candidate gene CAV3 was analyzed for mutations in affected families.

Main Results:

  • A specific RMD locus was identified on chromosome 3p25.
  • Missense mutations in the CAV3 gene were found in all five analyzed families.
  • These CAV3 mutations confirm allelism between RMD and limb-girdle muscular dystrophy type 1C (LGMD1C).

Conclusions:

  • Mutations in the CAV3 gene are the cause of Hereditary Rippling Muscle Disease.
  • This research highlights shared genetic underpinnings between dystrophic and non-dystrophic muscle diseases.

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