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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Main Authors: 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
Jezik:Inglês
Izdano: American Society for Investigative Pathology 2004
Teme:
Regular Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1602276/
https://ncbi.nlm.nih.gov/pubmed/14742276
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