Two recurrent mutations are associated with GNE myopathy in the North of Britain.

doi:10.1136/jnnp-2013-306314

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Article

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2014

Chaouch Amina, Brennan Kathryn M, Hudson Judith, Longman Cheryl, McConville John, Morrison Patrick J, Farrugia Maria E, Petty Richard, Stewart Willie, Norwood Fiona, Horvath Rita, Chinnery Patrick F, Costigan Donald, Winer John, Polvikoski Tuomo, Healy Estelle, Sarkozy Anna, Evangelista Teresinha, Pogoryelova Oksana, Eagle Michelle, Bushby Kate, Straub Volker, Lochmüller Hanns

Abstract excerpt

OBJECTIVE: GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype is associated with distal muscle weakness with quadriceps sparing. Most of the current information on GNE myopathy has been obtained through studies of Jewish and Japanese patient cohorts carrying founder mutations in the GNE gene. However, little is known about GNE myopathy in Europe...

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PMID: 24695763
DOI: 10.1136/jnnp-2013-306314
PMCID: PMC6625961

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