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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Blackwell Publishing Ltd 2008
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Research Articles
Online toegang: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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