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Article

Variable phenotypes of knockin mice carrying the M712T Gne mutation.

Neuromolecular medicine - 1 Mar 2013

Sela Ilan, Yakovlev Lena, Becker Cohen Michal, Elbaz Moran, Yanay Nurit, Ben Shlomo Uri, Yotvat Hagit, Fellig Yakov, Argov Zohar, Mitrani-Rosenbaum Stella

Abstract excerpt

GNE myopathy is a recessive adult onset, slowly progressive distal and proximal myopathy, caused by mutations in the GNE gene. The most frequent mutation in GNE myopathy patients is the Middle Eastern founder mutation M712T. We have generated Gne (M712T/M712T) knockin mice. A high mortality rate in the first generation due to renal failure was recorded (as previously described). However, the following Gne...

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Identifiers

PMID: 23238814
DOI: 10.1007/s12017-012-8209-7

Genes

GNE
XBP1

Provenance

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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