A novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations

Lewis, AJM; Finlayson, S; Mahmod, M; Karamitsos, TD; Dass, S; Ashrafian, h; Francis, JM; Watkins, H; Beeson, D; Palace, J; Neubauer, S

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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APA Style

Lewis, A. J. M., Finlayson, S., Mahmod, M., Karamitsos, T. D., Dass, S., Ashrafian, h, Francis, J. M., Watkins, H., Beeson, D., Palace, J., & Neubauer, S. (2014). A novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations. Experimental and Clinical Cardiology, 20(8), 3139–3145.

MLA Style

Lewis, A. JM, et al. “A Novel Cardiac Phenotype in Patients with GFPT1 or DPAGT1 Mutations.” Experimental and Clinical Cardiology, vol. 20, no. 8, Cardiology Academic Press, 2014, pp. 3139–45.

Chicago Style

Lewis, AJM, S Finlayson, M Mahmod, TD Karamitsos, S Dass, h Ashrafian, JM Francis, et al. 2014. “A Novel Cardiac Phenotype in Patients with GFPT1 or DPAGT1 Mutations.” Experimental and Clinical Cardiology 20 (8): 3139–45.
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