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Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Seferian, Andreea M; Malfatti, Edoardo; Bosson, Caroline; Pelletier, Laurent; Taytard, Jessica; Forin, Veronique; Gidaro, Teresa; Gargaun, Elena; Carlier, Pierre; Fauré, Julien; Romero, Norma B; Rendu, John; Servais, Laurent.
Afiliação
  • Seferian AM; I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France. Electronic address: a.seferian@institut-myologie.org.
  • Malfatti E; Sorbonne Universities, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France; Unit of Neuromuscular Morphology, Institute of Myology, GHU La Pitié-Salpêtrière, Paris, France; Reference center for Neuromuscular Pathologies for Easter
  • Bosson C; Departement of Biochemistry, Molecular Biochemistry and Genetics, Toxicology and Pharmacology, Grenoble Alpes University, GIN Institute of Neurosciences, Grenoble, France.
  • Pelletier L; Departement of Biochemistry, Molecular Biochemistry and Genetics, Toxicology and Pharmacology, Grenoble Alpes University, GIN Institute of Neurosciences, Grenoble, France.
  • Taytard J; Pediatric Pulmonology Department, AP-HP, Armand Trousseau Hospital, Université Pierre et Marie Curie-Paris6, Inserm U938, Paris, France.
  • Forin V; Pediatric Rehabilitation Department, AP-HP, Armand Trousseau Hospital, Paris, France.
  • Gidaro T; I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France.
  • Gargaun E; I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France.
  • Carlier P; NMR Laboratory, Institute of Myology, AIM & CEA, Paris, France.
  • Fauré J; Departement of Biochemistry, Molecular Biochemistry and Genetics, Toxicology and Pharmacology, Grenoble Alpes University, GIN Institute of Neurosciences, Grenoble, France.
  • Romero NB; Sorbonne Universities, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, Paris, France; Unit of Neuromuscular Morphology, Institute of Myology, GHU La Pitié-Salpêtrière, Paris, France; Reference center for Neuromuscular Pathologies for Easter
  • Rendu J; Departement of Biochemistry, Molecular Biochemistry and Genetics, Toxicology and Pharmacology, Grenoble Alpes University, GIN Institute of Neurosciences, Grenoble, France.
  • Servais L; I-Motion - Research Center for Pediatric Neuromuscular Diseases, Armand Trousseau Hospital, Paris, France. Electronic address: l.servais@institut-myologie.org.
Neuromuscul Disord ; 26(10): 712-716, 2016 10.
Article em En | MEDLINE | ID: mdl-27528495
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Proteínas Musculares / Mutação Limite: Child / Female / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias da Nemalina / Proteínas Musculares / Mutação Limite: Child / Female / Humans Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2016 Tipo de documento: Article