Article
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2012
Murphy Sinead M, Laura Matilde, Fawcett Katherine, Pandraud Amelie, Liu Yo-Tsen, Davidson Gabrielle L, Rossor Alexander M, Polke James M, Castleman Victoria, Manji Hadi, Lunn Michael P T, Bull Karen, Ramdharry Gita, Davis Mary, Blake Julian C, Houlden Henry, Reilly Mary M
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guidelines for genetic testing in practice. METHODS: The genes known to cause CMT were sequenced in 1607 patients with CMT...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.