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Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

The dystroglycanopathies comprise a clinically and genetically heterogeneous group of muscular dystrophies characterized by deficient glycosylation of α-dystroglycan. Mutations in the fukutin (FKTN) gene have primarily been identified among patients with classic Fukuyama congenital muscular dystroph...

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Autors principals: Puckett, Rebecca L., Moore, Steven A., Winder, Thomas L., Willer, Tobias, Romansky, Stephen G., Covault, Kelly King, Campbell, Kevin P., Abdenur, Jose E.
Format: Artigo
Idioma:Inglês
Publicat: 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2698593/
https://ncbi.nlm.nih.gov/pubmed/19342235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2009.03.001
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