Case report describes a novel GFPT1 variant causing congenital myasthenic syndrome, highlighting its clinical significance.
Our objective is to describe a novel GFPT1 variant causing congenital myasthenic syndrome (CMS), expanding the clinical, pathologic, neurophysiological and genetic understanding of GFPT1-related CMS and emphasizing the importance of deep phenotyping a novel genotype.
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Torrey et al. (2026) studied this question.
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