Journal article
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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Bibliographic Details
- Publisher:
- Cardiology Academic Press
- Journal:
- Experimental and Clinical Cardiology
- Volume:
- 20
- Issue:
- 8
- Pages:
- 3139-3145
- Publication date:
- 2014-01-01
- ISSN:
-
1205-6626
- Source identifiers:
-
481151
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:481151
- UUID:
-
uuid:103558cd-c176-4cdb-9ea7-747fe81a9bbb
- Local pid:
- pubs:481151
- Deposit date:
- 2014-08-27
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- Copyright date:
- 2014
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