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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | 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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