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Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies
We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I). The sarcolemma of these patients typically displays an immunocytochemical reduction of α-dystroglycan. In th...
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| Autors principals: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Investigative Pathology
2004
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1602276/ https://ncbi.nlm.nih.gov/pubmed/14742276 |
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