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LGMD2I in a North American population

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 LGM...

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Detalles Bibliográficos
Autores principales: Kang, Peter B, Feener, Chris A, Estrella, Elicia, Thorne, Marielle, White, Alexander J, Darras, Basil T, Amato, Anthony A, Kunkel, Louis M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2216011/
https://www.ncbi.nlm.nih.gov/pubmed/18036232
http://dx.doi.org/10.1186/1471-2474-8-115