G.P.14.09 Molecular genetic testing of the sarcoglycanopathies

Abstract

Mutations in the proteins of the sarcoglycan complex are a significant cause of recessive autosomally inherited muscular dystrophy. The resultant phenotype of the sarcoglycanopathies is very broad, ranging from Duchenne-like muscular dystrophy to late-onset forms of limb-girdle muscular dystrophy. Molecular genetic testing of four sarcoglycan genes, SGCA, SGCB, SGCG and SGCD – associated with LGMD types 2D, 2E, 2C and 2F, respectively – is now offered at the Northern Genetics Service in Newcastle-upon-Tyne, funded through the National Commissioning Group (NCG).