Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.

Authors:

Emiliano Giardina 1 2 , Pilar Camaño 3 4 , Sarah Burton-Jones 5 , Gina Ravenscroft 6 , Franclo Henning 7 , Frederique Magdinier 8 , Nienke van der Stoep 9 , Patrick J van der Vliet 10 , Rafaëlle Bernard 8 11 , Pedro J Tomaselli 12 , Mark R Davis 13 , Ichizo Nishino 14 15 , Piraye Oflazer 16 , Valerie Race 17 , Venugopalan Y Vishnu 18 , Victoria Williams 19 , Cláudia F R Sobreira 12 , Silvere M van der Maarel 10 , Steve A Moore 20 , Nicol C Voermans 21 , Richard J L F Lemmers 10

1
Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, Rome, Italy.
2
Department of Biomedicine & Prevention, Tor Vergata University of Rome, Rome, Italy.
3
Molecular Diagnostics Platform, Biogipuzkoa Health Research Institute, Hospital Universitario Donostia, San Sebastián, Spain.
4
CIBERNED, CIBER, Spanish Ministry of Science & Innovation, Carlos III Health Institute, Madrid, Spain.
5
South West Genomics Laboratory Hub, Southmead Hospital, Bristol, UK.
6
Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
7
Division of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
8
Aix Marseille Univ, INSERM, Marseille Medical Genetics, Marseille, France.
9
Department of Clinical Genetics, Leiden University Medical Center, The Netherlands.
10
Department of Human Genetics, Leiden University Medical Center, The Netherlands.
11
Centre Hospitalier Universitaire Timone Adultes, Biogénopôle, Service de Génétique Médicale, Marseille, France.
12
Department of Neurosciences, Division of Neurology, Ribeirao Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.
13
Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
14
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
15
Department of Genome Medicine Development, Clinical Genome Analysis, Medical Genome Center (MGC), National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
16
Department of Neurology, Koç University Hospital Muscle Center, Koç University Medical Faculty, Istanbul, Turkey.
17
Clinical Laboratory Geneticist, Human Genetics, UZ Leuven, Leuven, Belgium.
18
Department of Neurology, All India Institute of Medical Sciences (AIIMS), Delhi, India.
19
EMQN CIC, Manchester, UK.
20
Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center, Department of Pathology, Roy J. And Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA.
21
Department of Neurology, Radboud university medical center, Nijmegen, The Netherlands.