DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number19
JournalBMC Medical Genetics
Volume21
Issue number1
Number of pages10
ISSN1471-2350
DOIs
Publication statusPublished - 31 Jan 2020
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Cardiomyopathies
  • Dilated cardiomyopathy
  • Arrhythmogenic cardiomyopathy
  • desmoplakin
  • DSP
  • Mutation
  • DILATED CARDIOMYOPATHY
  • WOOLLY HAIR
  • GENETICS
  • MUTATION
  • PHENOTYPE
  • TRUNCATIONS
  • GUIDELINES
  • DOMAIN
  • SKIN
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

Cite this

Heliö, K., Kangas-Kontio, T., Weckström, S., Vanninen, S. U. M., Aalto-Setälä, K., Alastalo, T-P., Myllykangas, S., Heliö, T. M., & Koskenvuo, J. W. (2020). DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy. BMC Medical Genetics, 21(1), [19]. https://doi.org/10.1186/s12881-020-0955-z