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

GNE myopathy is a rare recessive myopathy associated with inclusion bodies on muscle biopsy. The clinical phenotype associated with mutations in the GNE gene is distal muscle weakness and wasting while the quadriceps muscle is preserved. Most of the current information on GNE myopathy has been obtai...

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Publicado no:J Neurol Neurosurg Psychiatry
Main Authors: Chaouch, Amina, Brennan, Kathryn M, Hudson, Judith, Longman, Cheryl, McConville, Jon, Morrisson, Patrick J, Farrugia, Maria E, Petty, Richard, Stewart, Willie, Norwood, Fiona, Horvath, Rita, Chinnery, Patrick F, Costigan, Donald, Winer, John, Polvikoski, Tuomo, Healey, Estelle, Sarkozy, Anna, Guglieri, Michela, Evangelista, Teresinha, Pogoryelova, Oksana, Eagle, Michelle, Bushby, Kate, Straub, Volker, Lochmüller, Hanns
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625961/
https://ncbi.nlm.nih.gov/pubmed/24695763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2013-306314
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