How is GNE Myopathy Diagnosed?

If you are looking to see whether you have GNE Myopathy, a diagnosis will involve visiting a Doctor (more specifically a Neurologist or Neuro-muscular specialist) who will examine you and might conduct some tests. Diagnosis is confirmed by a gene sequence analysis. Sequence analysis requires only a quick and painless cheek swab but please be sure to confirm the expenses involved with your Doctor.

Diagnosis and Diagnostic Centres

Diagnosis of GNE myopathy is initially done based on clinical examination and investigations. Diagnosis is confirmed by gene sequence analysis. Sequence analysis is easy and requires only a quick and painless cheek swab. This is a list of the places in different countries where it may be possible to get a confirmed diagnosis of GNE Myopathy.


  • Australia: Royal North Shore Hospital, Dr. Christina Lang, Reserve Rd, St Leonards, NSW, 2065


  • Mcmaster University Medical Centre, Dr. Mark Tarnopolsky, Dept. Of Pediatrics And Medicine,H S C 2H26,1200 Main Street West,Hamilton ON L8N 3Z5
  • London Health Sciences Center In London, Ontario, Dr. Shannon Venance


  • First Teaching Hospital Of Beijing University, Beijing (Dr. Wang Zhaoxia, Drwangzx@Yahoo.Com.Cn)


  • National Health And Medical Research Institute (Dr. Nicolas Levy, Marseille, Nicolas.Levy@Univmed.Fr)
  • Centre De Réfénceneuromosculaire GNMH Hôpital Marin - APHP (Dr. J. Andoniurtizberea, Hendaye,Andoni.Urtizberea@Hnd.Aphp.Fr)


  • Clinic, Aschaffeburg, Neurologieklinik, Dr. Klaus Isenhardt


  • Belfast City Hospital, N.Ireland, Drmcconville, 028 9026 3124



  • Hadassah Hospital, Jerusalem (Dr. Stella Mitrani-Rosenbaum, stella@cc.huji.ac.il)


  • Catholic University, Rome (Dr. Massimiliano Mirabella and Dr. AldobrandoBroccolini)
  • Istituto Neurologico Carlo Besta, http://www.istituto-besta.it/ (contact person: Dr. Barbara Pasanisi)
  • Universitàdeglistudi di Messina Messina, Italia Contatto: Prof. Carmelo Rodolico (crodolico@unime.it) Universitàdeglistudi di Milano Milano, Italia Contatto: Prof. Giacomo Comi


  • National Center for Neurology and Psychiatry, Tokyo (Dr.Ichizo Nishino, nishino@ncnp.go.jp)
  • Department of Neuromuscular Research, DrIchizo Nishino, Ogawahigashi-cho, Kodaira, Tokyo, 187-8502, Japan


  • Pusan National University Yangsan Hospital, Yangsan (Dr.Dae-Seong Kim, dskim@pusan.ac.kr)
  • Gangnam Severance Hospital, Seoul (Dr. Young-Chu,ycchoi@yuhs.ac)


South Africa

  • Netcare Sunninghill Hospital, CnrNanyuki&Witkoppen Road, Johannesburg, Dr. Jody Pearl (Neurologist)
    Tel: (011) 806 1500



  • Istanbul University Faculty of Medicine (Capa) Department of Neurology
    TurgutOzalCaddesi, No.118 Zip Code: 34093 Fatih/ İstanbul, Çapa Tıp Fakültesi, 34093 Fatih/İstanbul Telephone: (+90212) 414 20 00 Neurology Dept. – 31291

United Kingdom

  • Institute of Genetic Medicine, Centre for life, Newcastle, Dr.Teresinha Evangelista and Kate Bushby
  • John Walton Muscular Dystrophy Research Centre, Newcastle upon Tyne (Dr Oksana Pogoryelova, Oksana.pogoryelova@ncl.ac.uk)
  • Northern Molecular Genetic Services, Newcastle upon Tyne, UK
  • University of Oxford, Dr David Hilton-Jones, https://www.ndcn.ox.ac.uk/team/david-hilton-jones
  • UK Institute of Genetic Medicine Newcastle University International Centre for Life Central Parkway Newcastle upon Tyne NE1 3BZ UK, Tel: ++ (0)191 241 8616 Doctors: Hann Lochmuller and OskanaPokoryelova


  • Baylor College of Medicine, Department of Neurology, https://www.bcm.edu/departments/neurology
  • Cedars-Sinai Medical Genetics Institute, Los Angeles, California +1(310) 423-9914
  • Children's Hospital of Philadelphia, 3400 Civic Center Blvd, Philadelphia Pa. Dr. Finkel and Dr. Bonnerman,
  • Forbes Norris MDA/ALS Research and Treatment Center at California Pacific Medical Center, San Francisco, California
  • HIBM Research Group (HRG), Reseda, California +1(818) 789-1033
  • Dr. Margherita Milone, The Mayo Clinic. Rochester Minnesota, Dr.GavrillovaandDr. Margherita Milone
  • Jefferson Health, Goran G. Rakocevic, MD. Neurology,Neuromuscular Medicine.
  • Thomas Jefferson University Hospital, Philadelphia, PA
  • UCLA Prenatal Diagnosis Center +1(310) 825-0300
  • University Mass Memorial Medical Center, 55 Lake Avenue North, Worcester, Massachusetts 01655 - Lawrence J. Hayward, MD, PhD, Neurologist
  • University of Texas Health San Antonio Medical Arts & Research Center – MARC,Neurology,DrCaralyne Jackson, 8300 Floyd Curl Dr., 8th Floor, San Antonio , TX 78229, Phone: 210-450-9700
  • North Shore University Hospital, Manhasset, New York