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Article

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Neuromuscular disorders : NMD - 1 Feb 2013

Ravenscroft Gianina, Thompson Elizabeth M, Todd Emily J, Yau Kyle S, Kresoje Nina, Sivadorai Padma, Friend Kathryn, Riley Kate, Manton Nicholas D, Blumbergs Peter, Fietz Michael, Duff Rachael M, Davis Mark R, Allcock Richard J, Laing Nigel G

Abstract excerpt

The clinically and genetically heterogenous foetal akinesias have low rates of genetic diagnosis. Exome sequencing of two siblings with phenotypic lethal multiple pterygium syndrome identified compound heterozygozity for a known splice site mutation (c.691+2T>C) and a novel missense mutation (c.956A>G; p.His319Arg) in glycogen branching enzyme 1 (GBE1). GBE1 mutations cause glycogen storage disease IV (GSD IV),...

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Source

Identifiers

PMID: 23218673
DOI: 10.1016/j.nmd.2012.11.005

Genes

GBE1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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