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Open Access 01-12-2007 | Research article

LGMD2I in a North American population

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

Published in: BMC Musculoskeletal Disorders | Issue 1/2007

Abstract

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.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2474/8/115/prepub

Title: LGMD2I in a North American population
Authors: Peter B Kang
Chris A Feener
Elicia Estrella
Marielle Thorne
Alexander J White
Basil T Darras
Anthony A Amato
Louis M Kunkel
Publication date: 01-12-2007
Publisher: BioMed Central
Published in: BMC Musculoskeletal Disorders / Issue 1/2007
Electronic ISSN: 1471-2474
DOI: https://doi.org/10.1186/1471-2474-8-115

At a glance: The STEP trials

Springer Medicine

LGMD2I in a North American population

Abstract

Background

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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