Your browser doesn't support javascript.
loading
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.
Cerino, Mathieu; Di Meglio, Chloé; Albertini, Francesca; Audic, Frédérique; Riccardi, Florence; Boulay, Christophe; Philip, Nicole; Bartoli, Marc; Lévy, Nicolas; Krahn, Martin; Chabrol, Brigitte.
Afiliação
  • Cerino M; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.
  • Di Meglio C; APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
  • Albertini F; GIPTIS (Genetics Institute for Patients, Therapies Innovation and Science), Marseille, France.
  • Audic F; APHM, Hôpital de la Conception, Laboratoire de Biochimie, Marseille, France.
  • Riccardi F; APHM, Hôpital Timone Enfants, Service de Neurologie Pédiatrique, Marseille, France.
  • Boulay C; APHM, Hôpital Timone Enfants, Service de Neurologie Pédiatrique, Marseille, France.
  • Philip N; APHM, Hôpital Timone Enfants, Service de Neurologie Pédiatrique, Marseille, France.
  • Bartoli M; Aix Marseille Univ, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.
  • Lévy N; APHM, Hôpital Timone Enfants, Département de Génétique Médicale, Marseille, France.
  • Krahn M; GIPTIS (Genetics Institute for Patients, Therapies Innovation and Science), Marseille, France.
  • Chabrol B; APHM, Hôpital Timone Enfants, Service de Neurologie Pédiatrique, Marseille, France.
Mol Genet Genomic Med ; 8(8): e1277, 2020 08.
Article em En | MEDLINE | ID: mdl-32537934
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas de Transporte Nucleocitoplasmático / Miotonia Congênita Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas de Transporte Nucleocitoplasmático / Miotonia Congênita Idioma: En Ano de publicação: 2020 Tipo de documento: Article