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A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
Zambon, Alberto A; Pitt, Matthew; Laurà, Matilde; Polke, James M; Reilly, Mary M; Muntoni, Francesco.
Affiliation
  • Zambon AA; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
  • Pitt M; Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Laurà M; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology, London, UK.
  • Polke JM; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology, London, UK.
  • Reilly MM; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology, London, UK.
  • Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
J Peripher Nerv Syst ; 25(3): 303-307, 2020 09.
Article in En | MEDLINE | ID: mdl-32412171
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Charcot-Marie-Tooth Disease / Myelin Proteins Limits: Child / Female / Humans Language: En Journal: J Peripher Nerv Syst Journal subject: NEUROLOGIA Year: 2020 Document type: Article Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ataxia / Charcot-Marie-Tooth Disease / Myelin Proteins Limits: Child / Female / Humans Language: En Journal: J Peripher Nerv Syst Journal subject: NEUROLOGIA Year: 2020 Document type: Article Country of publication: United States