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NEUROLOGY 2005;65:1301-1303
© 2005 American Academy of Neurology
Brief Communications

Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation

Ricardo E. Madrid, MD, Christian Kubisch, MD and Arthur P. Hays, MD

From the New York State Institute for Basic Research in Developmental Disabilities, George A. Jervis Clinic, Staten Island (Dr. Madrid); Institute of Human Genetics, University of Cologne, Cologne, Germany (Dr. Kubisch); and Division of Neuropathology, Columbia University College of Physicians and Surgeons, New York, NY (Dr. Hays).

Address correspondence and reprint requests to Dr. Ricardo E. Madrid, Jervis Clinic/19, Institute for Basic Research, 1050 Forest Hill Road, Staten Island, NY 10314; e-mail: ricardo.madrid{at}omr.state.ny.us

The authors describe a family with autosomal dominant rippling muscle disease (RMD) and prominent early-onset toe walking. Molecular analysis revealed a novel heterozygous G > A transition at nucleotide position 136 in exon 2 of the caveolin-3 gene (CAV3). The role of Achilles tendon lengthening in more severe forms of RMD is discussed.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the October 25 issue to find the title link for this article.

Supported in part by the New York State Office of Mental Retardation and Developmental Disabilities and by a grant of the Deutsche Forschungsgemeinschaft.

Disclosure: The authors report no conflicts of interest.

Received February 10, 2005. Accepted in final form June 24, 2005.






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