Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

OBJECTIVE: Charcot-Marie Tooth disease (CMT) forms a clinically and genetically heterogeneous group of disorders. Although a number of disease genes have been identified for CMT, the gene discovery for some complex form of CMT has lagged behind. The association of neuropathy and optic atrophy (also...

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Detalles Bibliográficos
Autores principales: Tucci, Arianna, Liu, Yo-Tsen, Preza, Elisabeth, Pitceathly, Robert D S, Chalasani, Annapurna, Plagnol, Vincent, Land, John M, Trabzuni, Daniah, Ryten, Mina, Jaunmuktane, Zane, Reilly, Mary M, Brandner, Sebastian, Hargreaves, Iain, Hardy, John, Singleton, Andrew B, Abramov, Andrey Y, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995331/
https://www.ncbi.nlm.nih.gov/pubmed/24198383
http://dx.doi.org/10.1136/jnnp-2013-306387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995331/
https://www.ncbi.nlm.nih.gov/pubmed/24198383
http://dx.doi.org/10.1136/jnnp-2013-306387

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