European Journal of Human Genetics - Clinical utility gene card for: Centronuclear and myotubular myopathies
Clinical Utility Gene Card
European Journal of Human Genetics advance online publication 23 May 2012; doi: 10.1038/ejhg.2012.91
Clinical utility gene card for: Centronuclear and myotubular myopathies
Valérie Biancalana1,2, Alan H Beggs3, Soma Das4, Heinz Jungbluth5,6, Wolfram Kress7, Ichizo Nishino8, Kathryn North9, Norma B Romero10 and Jocelyn Laporte2
- 1Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU, Strasbourg, France
- 2Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France, Illkirch, France
- 3Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA
- 4Department of Human Genetics, The University of Chicago, Chicago, IL, USA
- 5Department of Paediatric Neurology, Neuromuscular Service, Evelina Children’s Hospital, London, UK
- 6Clinical Neuroscience Division, IOP, King’s College London, London, UK
- 7Institute of Human Genetics, University of Wuerzburg, Wuerzburg, Germany
- 8Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan
- 9Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia
- 10Unit of Neuromuscular Morphology, Institute of Myology, UPMC University Paris 6 UM76, Inserm UMRS 974, CNRS UMR 7215, AP-HP, GHU Pitié-Salpêtrière, Paris, France
Correspondence: Dr V Biancalana, Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU, Nouvel Hôpital Civil, 1 place de l’ Hôpital, Strasbourg 67091, France. Tel: +33 369 55 07 77; Fax: +33 369 55 18 94; E-mail: valerie.biancalana@chru-strasbourg.fr
1. Disease Characteristics
1.1 Name of the disease (synonyms)
Centronuclear myopathy, myotubular myopathy.1
1.2 OMIM# of the disease
Myotubular myopathy, XLCNM, MTM, XLMTM, CNMX, X-linked recessive centronuclear myopathy, 310400
Centronuclear myopathy 1, CNM1, autosomal dominant, 160150
Centronuclear myopathy 2, CNM2, autosomal recessive, 255200
No hay comentarios:
Publicar un comentario