LGMD2I in a North American population

Peter B. Kang, Chris A. Feener, Elicia Estrella, Marielle Thorne, Alexander J. White, Basil T. Darras, Anthony A. Amato, Louis M. Kunkel

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


Background. There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I). Methods. We screened the FKRP gene in two cohorts totaling 87 patients with the LGMD phenotype. Results. The c.826C>A, p.L276I mutation was present in six patients and a compound heterozygote mutation in a seventh patient. Six patients had a mild LGMD2I phenotype, which resembles that of Becker muscular dystrophy. The other patient had onset before the age of 3 years, and thus may follow a more severe course. Conclusion. These findings suggest that LGMD2I may be common in certain North American populations. This diagnosis should be considered early in the evaluation of LGMD.

Original languageEnglish (US)
Article number115
JournalBMC Musculoskeletal Disorders
StatePublished - 2007
Externally publishedYes


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