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No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.
Bertolin, C; Querin, G; Da Re, E; Sagnelli, A; Bello, L; Cao, M; Muscas, M; Pennuto, M; Ermani, M; Pegoraro, E; Mariotti, C; Gellera, C; Hanna, M G; Pareyson, D; Fratta, P; Sorarù, G.
Afiliação
  • Bertolin C; Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
  • Querin G; Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
  • Da Re E; Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
  • Sagnelli A; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
  • Bello L; Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
  • Cao M; Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
  • Muscas M; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
  • Pennuto M; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.
  • Ermani M; Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
  • Pegoraro E; Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
  • Mariotti C; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
  • Gellera C; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
  • Hanna MG; Dulbecco Telethon Institute Laboratory of Neurodegenerative Diseases, Centre for Integrative Biology (CIBIO), University of Trento, Trento, Italy.
  • Pareyson D; Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences - IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
  • Fratta P; Dulbecco Telethon Institute Laboratory of Neurodegenerative Diseases, Centre for Integrative Biology (CIBIO), University of Trento, Trento, Italy.
  • Sorarù G; Neuromuscular Center, Department of Neurosciences, University of Padova, Padova, Italy.
Eur J Neurol ; 23(6): 1134-6, 2016 06.
Article em En | MEDLINE | ID: mdl-27141859
BACKGROUND AND PURPOSE: Disease severity varies considerably among patients with Spinal and Bulbar Muscular Atrophy (SBMA). Our aim was to investigate the role of androgen receptor (AR) polymorphic repeats in SBMA phenotype. METHODS: We analyzed the length of AR polyQ and polyG tracts in 159 SBMA patients. RESULTS: No relationship between polyG size or polyG/polyQ haplotypes and clinical phenotype was found. An independent negative correlation between polyQ-length and onset of weakness was confirmed (P < 0.001). CONCLUSIONS: The negative results of our study prompt to continue the search for potential disease modifiers in SBMA outside the AR gene.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Receptores Androgênicos / Polimorfismo de Nucleotídeo Único Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Receptores Androgênicos / Polimorfismo de Nucleotídeo Único Limite: Humans Idioma: En Ano de publicação: 2016 Tipo de documento: Article