A Comparative Study of α‐Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α‐Dystroglycan Does Not Consistently Correlate with Clinical Severity

Hypoglycosylation of α‐dystroglycan underpins a subgroup of muscular dystrophies ranging from congenital onset of weakness, severe brain malformations and death in the perinatal period to mild weakness in adulthood without brain involvement. Mutations in six genes have been identified in a proportio...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Jimenez‐Mallebrera, Cecilia, Torelli, Silvia, Feng, Lucy, Kim, Jihee, Godfrey, Caroline, Clement, Emma, Mein, Rachael, Abbs, Stephen, Brown, Susan C., Campbell, Kevin P., Kröger, Stephan, Talim, Beril, Topaloglu, Haluk, Quinlivan, Ros, Roper, Helen, Childs, Anne M., Kinali, Maria, Sewry, Caroline A., Muntoni, Francesco
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Blackwell Publishing Ltd 2008
Pynciau:
Research Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2860390/
https://ncbi.nlm.nih.gov/pubmed/18691338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2008.00198.x
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