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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.9...

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Source

Identifiers

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

Genes

GBE1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23218673-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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