Two recurrent mutations are associated with GNE myopathy in the North of Britain
Amina Chaouch, Kathryn M Brennan, Judith Hudson, Cheryl Longman, John McConville, Patrick J Morrison, Maria E Farrugia, Richard Petty, Willie Stewart, Fiona Norwood, Rita Horvath, Patrick F Chinnery, Donald Costigan, John Winer, Tuomo Polvikoski, Estelle Healy, Anna Sarkozy, Teresinha Evangelista, Oksana Pogoryelova, Michelle Eagle, Kate Bushby, Volker Straub, Hanns Lochmüller
Journal of Neurology, Neurosurgery & Psychiatry Dec 2014, 85 (12) 1359-1365; DOI: 10.1136/jnnp-2013-306314