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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Hauptverfasser: Brown, Susan C., Torelli, Silvia, Brockington, Martin, Yuva, Yeliz, Jimenez, Cecilia, Feng, Lucy, Anderson, Louise, Ugo, Isabella, Kroger, Stephan, Bushby, Kate, Voit, Thomas, Sewry, Caroline, Muntoni, Francesco
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Investigative Pathology 2004
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1602276/
https://ncbi.nlm.nih.gov/pubmed/14742276
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