A 'second truncation' in TTN causes early onset recessive muscular dystrophy

Elizabeth Harris, Ana Töpf, Anna Vihola, Anni Evilä, Rita Barresi, Judith Hudson, Peter Hackman, Brian Herron, Daniel MacArthur, Hanns Lochmüller, Kate Bushby, Bjarne Udd, Volker Straub

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalNeuromuscular Disorders
Volume27
Issue number11
Pages (from-to)1009-1017
Number of pages9
ISSN0960-8966
DOIs
Publication statusPublished - Nov 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Titin
  • Titinopathy
  • Limb girdle muscular dystrophy
  • Exome sequencing
  • Dilated cardiomyopathy
  • C-TERMINAL TITIN
  • CARDIOMYOPATHY
  • MYOPATHY
  • TITINOPATHY
  • MUTATIONS
  • GENES
  • PHENOTYPE
  • 3111 Biomedicine

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