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...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Blackwell Publishing Ltd 2008
Schlagworte:
Research Articles
Online Zugang: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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