A novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations
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...
| Main Authors: | , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Cardiology Academic Press
2014
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