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Mutation spectrum and phenotypes of thirty Portuguese families with autosomal r...

A group of 65 patients, comprising 59 apparently unrelated families, were screened for mutations in the sarcoglycan (SG) genes, as well as in the CANP3 and DYSF genes. A total of 30 families(36 patients) were characterized at the molecular level and found to fall into the following groups: 4, LGMD2A; 15, LGMDC; 8, LGMD2D; 3, LGMD2E. Four new mutations were identi®ed: two in the a-SG and two in the b-SG genes. O...