European Journal of Human Genetics - Clinical utility gene card for: Centronuclear and myotubular myopathies

full-text ►
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 Biancalana^1,2, Alan H Beggs³, Soma Das⁴, Heinz Jungbluth^5,6, Wolfram Kress⁷, Ichizo Nishino⁸, Kathryn North⁹, Norma B Romero¹⁰ and Jocelyn Laporte²

1. ¹Laboratoire de Diagnostic Génétique, Faculté de Médecine – CHRU, Strasbourg, France
2. ²Department of Translational Medecine and Neurogenetics, IGBMC, INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France, Illkirch, France
3. ³Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Harvard Medical School, Boston, MA, USA
4. ⁴Department of Human Genetics, The University of Chicago, Chicago, IL, USA
5. ⁵Department of Paediatric Neurology, Neuromuscular Service, Evelina Children’s Hospital, London, UK
6. ⁶Clinical Neuroscience Division, IOP, King’s College London, London, UK
7. ⁷Institute of Human Genetics, University of Wuerzburg, Wuerzburg, Germany
8. ⁸Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan
9. ⁹Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia
10. 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

Top of page

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