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Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
Barca, E; Musumeci, O; Montagnese, F; Marino, S; Granata, F; Nunnari, D; Peverelli, L; DiMauro, S; Quinzii, C M; Toscano, A.
Afiliação
  • Barca E; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Musumeci O; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Montagnese F; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Marino S; IRCCS Centro Neurolesi "Bonino Pulejo", Messina, Italy.
  • Granata F; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Nunnari D; IRCCS Centro Neurolesi "Bonino Pulejo", Messina, Italy.
  • Peverelli L; Department of Biomedical Sciences and Morphological and Functional Imaging, University of Messina, Messina, Italy.
  • DiMauro S; Department of Biomedical Sciences and Morphological and Functional Imaging, University of Messina, Messina, Italy.
  • Quinzii CM; IRCCS Centro Neurolesi "Bonino Pulejo", Messina, Italy.
  • Toscano A; Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Clin Genet ; 90(2): 156-60, 2016 Aug.
Article em En | MEDLINE | ID: mdl-26818466
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article