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High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.

Authors: Sveen, Marie-Louise  Schwartz, Marianne  Vissing, John 
Citation: Sveen ML, etal., Ann Neurol. 2006 May;59(5):808-15.
Pubmed: (View Article at PubMed) PMID:16634037
DOI: Full-text: DOI:10.1002/ana.20824

OBJECTIVES: The prevalence of limb girdle muscular dystrophy type 2I (LGMD2I) in northern Europe is unknown. We investigated this and the genotype-phenotype relation in LGMD2I.
METHODS: Prospective clinical and molecular screening of 118 Danish patients registered with LGMD was performed to divide patients into LGMD subtypes.
RESULTS: One hundred three patients fulfilled the clinical criteria for LGMD2. Thirty-eight had LGMD2I (27 homozygous, 11 compound heterozygous for 826C>A), 23 had sarcoglycanopathy, 2 dysferlinopathy, 12 calpainopathy, and 4 Becker muscular dystrophy. The 24 patients with no molecular diagnosis did not harbor fukutin-related protein gene (FKRP) mutations. A clear clinical delineation was found between patients homozygous and compound heterozygous for the 826C>A mutation. Homozygous patients had later debut, milder clinical progression, and less muscle weakness compared with compound heterozygous patients, who were all wheelchair bound by their mid-20s. Impaired cardiac pump function was found in both groups.
INTERPRETATION: This study reports a different distribution of LGMD subtypes in Denmark than seen in other geographic regions, with a threefold to fourfold higher prevalence of LGMD2I than elsewhere. The findings support a clear clinical delineation between patients homozygous and compound heterozygous for the 826C>A mutation in FKRP. The findings suggest that, in the studied region, screening for the 826C>A mutation will identify all persons with LGMD2I.


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RGD Object Information
RGD ID: 11667965
Created: 2017-01-19
Species: All species
Last Modified: 2017-01-19
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.