Key result
FKRP mutation analysis in 25 LGMD2I families identified mutations in 17 families, revealing the C826A mutation and showing LGMD2I is a milder allelic variant of MDC1C.
Population
25 potential limb girdle muscular dystrophy 2I families, including some with a severe and early onset…
Design
Other
Authors
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May aid targeted FKRP testing in LGMD2I; extends allelic spectrum but remains hypothesis-generating for management.
Observational (n=25)
LGMD2I is an allelic variant of congenital muscular dystrophy MDC1C caused by mutations in the FKRP gene, with the common C826A mutation resulting in a milder phenotype.
Martin Brockington (2001) conducted an observational in Limb girdle muscular dystrophy 2I (LGMD2I) (n=25). FKRP mutation analysis was evaluated on Identification of FKRP mutations. FKRP mutation analysis in 25 LGMD2I families identified mutations in 17 families, revealing the C826A mutation and showing LGMD2I is a milder allelic variant of MDC1C.
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