A new titinopathy Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

Rafael De Cid, Rabah Ben Yaou, Carinne Roudaut, Karine Charton, Sylvain Baulande, France Leturcq, Norma Beatriz Romero, Edoardo Malfatti, Maud Beuvin, Anna Vihola, Audrey Criqui, Isabelle Nelson, Juliette Nectoux, Laurene Ben Aim, Christophe Caloustian, Robert Olaso, Bjarne Udd, Gisele Bonne, Bruno Eymard, Isabelle Richard

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalNeurology
Volume85
Issue number24
Pages (from-to)2126-2135
Number of pages10
ISSN0028-3878
DOIs
Publication statusPublished - 15 Dec 2015
MoE publication typeA1 Journal article-refereed

Fields of Science

  • EARLY RESPIRATORY-FAILURE
  • TIBIAL MUSCULAR-DYSTROPHY
  • HEREDITARY MYOPATHY
  • HYPERTROPHIC CARDIOMYOPATHY
  • TITIN MUTATION
  • PROTEIN TITIN
  • GENE
  • DISEASE
  • MUSCLE
  • TTN
  • 3124 Neurology and psychiatry
  • 3111 Biomedicine

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