LGMD STUDY GROUP

$48,561M01FY2000RRNIH

Ohio State University, Columbus OH

Investigators

Linked publications & trials

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Abstract

The aims of the LGMD study group are: 1) Determine how many distrophin positive patients could be found to have a specific gene defect after excluding known disorders including: congenital muscular dystrophies, congenital myopathies, congenital myasthenia gravis, inflammatory myopathies, fascioscapulohumeral muscular dystrophy, defects in glycolysis and lipid storage, 2) determine genotype-phenotype correlations for specific gene defects, 3) determine the natural history of LGMD in relation to specific gene defects, 4) establish a pool of well characterized patients for potential enrollment in gene therapy clinical trials.

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