Article
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.
Neuromuscular disorders : NMD - 1 Jan 2011
Stensland Eva, Lindal Sigurd, Jonsrud Christoffer, Torbergsen Torberg, Bindoff Laurence A, Rasmussen Magnhild, Dahl Arve, Thyssen Frances, Nilssen Øivind
Abstract excerpt
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 the prevalence, the mutation spectrum and possible genotype-phenotype correlation, we studied a cohort of Norwegian patients with LGMD2I, ascertained in a 4-year period. In this retrospective study of genetically tested patients, we identified 88...
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