A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity-Reference-Cited by-同舟云学术

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

Published:2009-10 Issue:4 Volume:19 Page:596-611
ISSN:1015-6305
Container-title:Brain Pathology
language:en
Short-container-title:

Author:

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

Publisher

Wiley

Subject

Neurology (clinical),Pathology and Forensic Medicine,General Neuroscience

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4. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan;Brockington;Am J Hum Genet,2001

5. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C;Brockington;Hum Mol Genet,2001

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