Abstract
Mutations in the FKRP (Fukutin Related Protein) gene produce a range of phenotypes including Limb Girdle Muscular Dystrophy Type 2I (LGMD2I). In order to investigate prevalence, mutation spectrum and genotype – phenotype correlation, we studied a cohort of Norwegian patients with LGMD2I ascertained in a 4-year period. A total of 88 Norwegian LGMD patients with FKRP mutation were identified giving a minimum prevalence of 1/54,000 and corresponding carrier frequency of 1/116 in the Norwegian population.
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