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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Investigative Pathology 2004
Gaiak:
Regular Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1602276/
https://ncbi.nlm.nih.gov/pubmed/14742276
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