ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

doi:10.1007/s10545-016-9945-x

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Article

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.

Journal of inherited metabolic disease - 1 Sept 2016

Morava Eva, Tiemes Vera, Thiel Christian, Seta Nathalie, de Lonlay Pascale, de Klerk Hans, Mulder Margot, Rubio-Gozalbo Estela, Visser Gepke, van Hasselt Peter, Horovitz Dafne D G, de Souza Carolina Fischinger Moura, Schwartz Ida V D, Green Andrew, Al-Owain Mohammed, Uziel Graciella, Sigaudy Sabine, Chabrol Brigitte, van Spronsen Franc-Jan, Steinert Martin, Komini Eleni, Wurm Donald, Bevot Andrea, Ayadi Addelkarim, Huijben Karin, Dercksen Marli, Witters Peter, Jaeken Jaak, Matthijs Gert, Lefeber Dirk J, Wevers Ron A

Abstract excerpt

INTRODUCTION: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. METHODS: Based on Euroglycan database registration, we approached referring clinicians and collected comprehensive data on 41 patients. RESULTS: We found...

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PMID: 27287710
DOI: 10.1007/s10545-016-9945-x

Genes

ALG6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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