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A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b.
Corrado, L; Magri, S; Bagarotti, A; Carecchio, M; Piscosquito, G; Pareyson, D; Varrasi, C; Vecchio, D; Zonta, A; Cantello, R; Taroni, F; D'Alfonso, S.
Affiliation
  • Corrado L; Human Genetics Laboratory, Department of Health Sciences, Amedeo Avogadro University, Via Solaroli 17, 28100 Novara, Italy; Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), Amedeo Avogadro University, Novara, Italy. Electronic address: lucia.corrado@med.unipmn.it.
  • Magri S; Unit of Genetics of Neurodegenerative and Metabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milano, Italy.
  • Bagarotti A; Human Genetics Laboratory, Department of Health Sciences, Amedeo Avogadro University, Via Solaroli 17, 28100 Novara, Italy.
  • Carecchio M; Department of Neurology, Amedeo Avogadro University, Corso Mazzini 18, 28100 Novara, Italy.
  • Piscosquito G; Unit of Clinic of Central and Peripheral Degenerative Neuropathies, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milano, Italy.
  • Pareyson D; Unit of Clinic of Central and Peripheral Degenerative Neuropathies, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milano, Italy.
  • Varrasi C; Department of Neurology, Amedeo Avogadro University, Corso Mazzini 18, 28100 Novara, Italy.
  • Vecchio D; Department of Neurology, Amedeo Avogadro University, Corso Mazzini 18, 28100 Novara, Italy.
  • Zonta A; Human Genetics Laboratory, Department of Health Sciences, Amedeo Avogadro University, Via Solaroli 17, 28100 Novara, Italy.
  • Cantello R; Department of Neurology, Amedeo Avogadro University, Corso Mazzini 18, 28100 Novara, Italy.
  • Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milano, Italy.
  • D'Alfonso S; Human Genetics Laboratory, Department of Health Sciences, Amedeo Avogadro University, Via Solaroli 17, 28100 Novara, Italy; Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), Amedeo Avogadro University, Novara, Italy.
Neuromuscul Disord ; 26(8): 516-20, 2016 08.
Article in En | MEDLINE | ID: mdl-27344971
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Myelin P0 Protein / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Middle aged Language: En Journal: Neuromuscul Disord Year: 2016 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Myelin P0 Protein / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Middle aged Language: En Journal: Neuromuscul Disord Year: 2016 Document type: Article