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Article

LGMD2I in a North American population.

BMC musculoskeletal disorders - 24 Nov 2007

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18036232
DOI: 10.1186/1471-2474-8-115
PMCID: PMC2216011

Genes

FKRP

Variants

Provenance

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