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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Prenatal diagnosis of limb-girdle muscular dystrophy type 2C.

After studies which have mapped the gamma-sarcoglycan deficient limb-girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. The deletion of exon 5 in the gamma-sarcoglycan gene was found in a consanguineous family and prenatal diagnosis was successfully provided. This is the first prenatal diagnosis of LGMD2C.[1]


  1. Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. Dinçer, P., Piccolo, F., Leturcq, F., Kaplan, J.C., Jeanpierre, M., Topaloğlu, H. Prenat. Diagn. (1998) [Pubmed]
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