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A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
Cabet, Sara; Putoux, Audrey; Carneiro, Maryline; Labalme, Audrey; Sanlaville, Damien; Guibaud, Laurent; Lesca, Gaetan.
Afiliación
  • Cabet S; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; Department of Radiology, Groupement Hospitalier Est, Hospices Civils de Lyon, France.
  • Putoux A; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France.
  • Carneiro M; Department of Neurology, Groupement Hospitalier Est, Hospices Civils de Lyon, France.
  • Labalme A; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France.
  • Sanlaville D; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France.
  • Guibaud L; Department of Radiology, Groupement Hospitalier Est, Hospices Civils de Lyon, France.
  • Lesca G; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France. Electronic address: gaetan.lesca@chu-lyon.fr.
Eur J Med Genet ; 62(10): 103726, 2019 Oct.
Article en En | MEDLINE | ID: mdl-31319223
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Eliminación de Secuencia / Receptores de Glutamato Metabotrópico / Alelos Límite: Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Francia
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Eliminación de Secuencia / Receptores de Glutamato Metabotrópico / Alelos Límite: Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Francia