Genotype-phenotype correlations in recessive titinopathies

Marco Savarese, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sarkozy, Sushan Luo, Jordi Diaz-Manera, Christoffer Ehrstedt, Ricardo Rojas-Garcia, Amets Saenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, Helena LuquePhilippe Petiot, Adolfo Lopez de Munain, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo Maria Santorelli, Claudio Bruno, Thierry Kuntzer, Isabel Illa, Juan J. Vilchez, Cedric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar-Borota, Mark Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalGenetics In medicine
Volume22
Issue number12
Pages (from-to)2029-2040
Number of pages12
ISSN1098-3600
DOIs
Publication statusPublished - Dec 2020
MoE publication typeA1 Journal article-refereed

Fields of Science

  • titin
  • skeletal muscle disorders
  • cardiomyopathy
  • congenital myopathy
  • arthrogryposis
  • TIBIAL MUSCULAR-DYSTROPHY
  • C-TERMINAL TITIN
  • TRUNCATING MUTATIONS
  • TTN
  • GENE
  • MYOPATHY
  • LINE
  • EXPRESSION
  • SEQUENCE
  • VARIANT
  • 1184 Genetics, developmental biology, physiology

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