Human Molecular Genetics, 2000, Vol. 9, No. 15 2335-2340
© 2000 Oxford University Press
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
Department of Pediatrics and Pediatric Neurology, University of Essen, Hufelandstrasse 55, 45122 Essen, Germany, 1Department of Neuroanatomy, Max Planck Institute for Brain Research, 60528 Frankfurt, Germany and 2Department of Neuropathology and 3Department of Pediatrics, Heinrich-Heine University, 40225 Düsseldorf, Germany
Limb girdle muscular dystrophy is a group of clinically and genetically heterogeneous disorders inherited in an autosomal recessive or dominant mode. Caveolin-3, the muscle-specific member of the caveolin gene family, is implicated in the pathogenesis of autosomal dominant limb girdle muscular dystrophy 1C. Here we report on a 4-year-old girl presenting with myalgia and muscle cramps due to a caveolin-3 deficiency in her dystrophic skeletal muscle as a result of a heterozygous 136G
A substitution in the caveolin-3 gene. The novel sporadic missense mutation in the caveolin signature sequence of the caveolin-3 gene changes an alanine to a threonine (A46T) and prevents the localization of caveolin-3 to the plasma membrane in a dominant negative fashion. Caveolin-3 has been suggested to interact with the dystrophin–glycoprotein complex, which in striated muscle fibers links the cytoskeleton to the extracellular matrix and with neuronal nitric oxide synthase. Similar to dystrophin-deficient Duchenne muscular dystrophy, a secondary decrease in neuronal nitric oxide synthase and 
-dystroglycan expression was detected in the caveolin-3-deficient patient. These results implicate an important function of the caveolin signature sequence and common mechanisms in the pathogenesis of dystrophin–glycoprotein complex-associated muscular dystrophies with caveolin-3-deficient limb girdle muscular dystrophy.
+ These authors contributed equally to this work
§ To whom correspondence should be addressed. Tel: +49 201 723 3350; Fax: +49 201 723 5727; Email: volker.straub@uni-essen.de
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