Key result
The c.826C>A (L276I) mutation in the FKRP gene causes LGMD2I, which has a more severe clinical course than LGMD2H, and represents a founder mutation dispersed among European-origin populations.
Population
Hutterite families with Limb girdle muscular dystrophy not linked to LGMD2H, and 19 non-Hutterite LGMD2I…
Design
Other
Authors
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Supports targeted FKRP testing in European LGMD; leaves open cardiac risk stratification and therapeutic targets.
Observational
Yes
The c.826C>A mutation in the FKRP gene is a founder mutation responsible for LGMD2I, which is associated with a more severe clinical course and cardiac symptoms compared to LGMD2H.
Frosk et al. (2004) conducted an observational in Limb girdle muscular dystrophy (LGMD). Genetic analysis (FKRP gene mutation c.826C>A) vs. LGMD2H patients was evaluated on Clinical characteristics and haplotype analysis. The c.826C>A (L276I) mutation in the FKRP gene causes LGMD2I, which has a more severe clinical course than LGMD2H, and represents a founder mutation dispersed among European-origin populations.
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