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Article

A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.

Diabetes & metabolism - 1 Sept 2014

Ebrahim M S E, Lawson M L, Geraghty M T

Abstract excerpt

AIM: To describe the atypical phenotype and genotype of an adolescent girl with symptomatic exercise-induced hyperglycaemia, responsive to sulfonylurea treatment. METHODS: Chart review, gene sequencing, and blinded continuous glucose monitoring (Medtronic iPro2) were used to characterise the case. RESULTS: A novel heterozygous mutation p.Q219x (c.655C>T) in exon 6 of the glucokinase gene (NM_000162.3) was...

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PMID: 24503189
DOI: 10.1016/j.diabet.2013.12.012

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