| Identifier |
20120214_nanos_sciplatform_03 |
| Title |
Mitofusin 2 (MFN2) mutations cause mitochondrial DNA instability in Charcot-Marie-Tooth disease |
| Creator |
Patrick Yu-Wai-Man; Kamil Sitarz; Joanna Stewart; Angela Pyle; Mary Reilly; Rita Horvath; Patrick Chinnery |
| Affiliation |
(PY) (KS) (JS) (AP) (RH) (PC) Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK; (MR) Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK |
| Subject |
Charcot-Marie-Tooth Disease; Mitofusin 2 Mutations; Mitochondrial Disease; Neurodegeneration |
| Description |
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies and it affects at least 1 in 2,500 individuals. A specific autosomal-dominant axonal CMT subtype, hereditary motor and sensory neuropathy type VI (HMSN-VI, OMIM 601152), is caused by mutations in mitofusin 2 (MFN2, 1p36.2). |
| Date |
2012-02-14 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
2012 North American Neuro-Ophthalmology Society Annual Meeting |
| Relation is Part of |
NANOS 2012: Scientific Platform Presentations (Session II) |
| Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2012. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6tj1t51 |
| Setname |
ehsl_novel_nam |
| ID |
181857 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6tj1t51 |
