Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

BACKGROUND: The autosomal-recessive cerebellar ataxias (ARCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders. The large number of ARCA genes leads to delay and difficulties obtaining an exact diagnosis in many patients and families. Ubiquinone (CoQ10) deficiency...

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Detalles Bibliográficos
Autores principales: Liu, Yo-Tsen, Hersheson, Joshua, Plagnol, Vincent, Fawcett, Katherine, Duberley, Kate E C, Preza, Elisavet, Hargreaves, Iain P, Chalasani, Annapurna, Laurá, Matilde, Wood, Nick W, Reilly, Mary M, 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/PMC3995328/
https://www.ncbi.nlm.nih.gov/pubmed/24218524
http://dx.doi.org/10.1136/jnnp-2013-306483

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995328/
https://www.ncbi.nlm.nih.gov/pubmed/24218524
http://dx.doi.org/10.1136/jnnp-2013-306483

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