کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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3079445 | 1189304 | 2011 | 6 صفحه PDF | دانلود رایگان |
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 patients from 69 families, who were either homozygous or compound heterozygous for FKRP mutations. This gives a minimum prevalence of 1/54,000 and a corresponding carrier frequency of 1/116 in the Norwegian population. Seven different FKRP mutations, including three novel changes, were detected. Seventy-six patients were homozygous for the common c.826C>A mutation. These patients had later disease onset than patients who were compound heterozygous – 14.0 vs. 6.1 years. We detected substantial variability in disease severity among homozygous patients.
Journal: Neuromuscular Disorders - Volume 21, Issue 1, January 2011, Pages 41–46