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A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.
Lerat, Justine; Magdelaine, Corinne; Beauvais-Dzugan, Hélène; Espil, Caroline; Ghorab, Karima; Latour, Philippe; Derouault, Paco; Sturtz, Franck; Lia, Anne-Sophie.
Affiliation
  • Lerat J; Univ. Limoges, MMNP, Limoges, France.
  • Magdelaine C; CHU Limoges, Service Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Limoges, France.
  • Beauvais-Dzugan H; Univ. Limoges, MMNP, Limoges, France.
  • Espil C; CHU Limoges, Service Biochimie et Génétique Moléculaire, Limoges, France.
  • Ghorab K; Univ. Limoges, MMNP, Limoges, France.
  • Latour P; CHU Limoges, Service Biochimie et Génétique Moléculaire, Limoges, France.
  • Derouault P; CHU Bordeaux, Service de Pédiatrie, Bordeaux, France.
  • Sturtz F; Univ. Limoges, MMNP, Limoges, France.
  • Lia AS; CHU Limoges, Service Neurologie, Limoges, France.
J Peripher Nerv Syst ; 24(1): 139-144, 2019 Mar.
Article in En | MEDLINE | ID: mdl-30734407
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Neurofilament Proteins / Hearing Loss, Sensorineural Type of study: Prognostic_studies / Risk_factors_studies Limits: Aged / Female / Humans Language: En Journal: J Peripher Nerv Syst Journal subject: NEUROLOGIA Year: 2019 Type: Article Affiliation country: France
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Neurofilament Proteins / Hearing Loss, Sensorineural Type of study: Prognostic_studies / Risk_factors_studies Limits: Aged / Female / Humans Language: En Journal: J Peripher Nerv Syst Journal subject: NEUROLOGIA Year: 2019 Type: Article Affiliation country: France