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A novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations

Abstract:

Mutations in the GFPT1 and DPAGT1 genes, which encode enzymes associated with roles in protein N-linked glycosylation, have been recently identified in a rare subgroup of patients with congenital myasthenic syndromes (CMSs). Aberrant glycosylation is implicated in the development of cardiomyopathies in the congenital disorders of glycosylation. We investigated whether patients with CMS and GFPT1 or DPAGT1 mutations also had evidence of a cardiac phenotype. Cardiovascular magnetic resonance an...

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Cardiovascular Medicine
Role:
Author
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Publisher:
Cardiology Academic Press
Journal:
Experimental and Clinical Cardiology
Volume:
20
Issue:
8
Pages:
3139-3145
Publication date:
2014-01-01
ISSN:
1205-6626
URN:
uuid:103558cd-c176-4cdb-9ea7-747fe81a9bbb
Source identifiers:
481151
Local pid:
pubs:481151

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