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

Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, H.; Mulder, Margot; Rubio-Gozalbo, Estela; Visser, G.; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina; Schwartz, Ida; Green, Andrew; Al-Owain, Mohammed; Uziel, Graziella; 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, J.; Matthijs, Gert; Lefeber, Dirk; Wevers, Ron

doi:10.1007/s10545-016-9945-x

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 hypotonia and developmental delay in all ALG6-CDG patients and epilepsy, ataxia, proximal muscle weakness, and, in the majority of cases, failure to thrive.

Additional Metadata
Persistent URL	doi.org/10.1007/s10545-016-9945-x, hdl.handle.net/1765/93379
Journal	Journal of Inherited Metabolic Disease
Note	ERRATUM: The name of the author Christian Thiel was rendered wrongly in the original publication but has since been corrected.
Organisation	Department of Pediatrics
Citation APA Style AAA Style APA Style Cell Style Chicago Style Harvard Style IEEE Style MLA Style Nature Style Vancouver Style American-Institute-of-Physics Style Council-of-Science-Editors Style BibTex Format Endnote Format RIS Format CSL Format DOIs only Format	Morava, E., Tiemes, V., Thiel, C., Seta, N., de Lonlay, P., de Klerk, H., … Wevers, R. (2016). ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Journal of Inherited Metabolic Disease, 39(5), 713–723. doi:10.1007/s10545-016-9945-x

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Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies (J Inherit Metab Dis, 10.1007/s10545-016-9945-x)

E. Morava (Eva), V. Tiemes (Vera), C. Thiel (Christian), N. Seta (Nathalie), P. de Lonlay (Pascale), H. de Klerk, M.F. Mulder (Margot), M.E. Rubio-Gozalbo (Estela), G. Visser (G.), P.M. van Hasselt (Peter), et al.

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

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Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies (J Inherit Metab Dis, 10.1007/s10545-016-9945-x)

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

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article Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies (J Inherit Metab Dis, 10.1007/s10545-016-9945-x)

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Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies (J Inherit Metab Dis, 10.1007/s10545-016-9945-x)