Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

Sami Qadri, Olli Anttonen, Juho Viikila, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Helio, Juha W. Koskenvuo

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number86
JournalBMC Medical Genetics
Volume18
Number of pages9
ISSN1471-2350
DOIs
Publication statusPublished - 17 Aug 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Arrhythmogenic right ventricular cardiomyopathy
  • Cardiomyopathies
  • Desmosomes
  • DSG2
  • Mutation
  • Case series
  • DESMOSOMAL MUTATION CARRIERS
  • PROTEIN GENE-MUTATIONS
  • TASK-FORCE CRITERIA
  • DILATED CARDIOMYOPATHY
  • PALMOPLANTAR KERATODERMA
  • SUDDEN-DEATH
  • WOOLLY HAIR
  • DYSPLASIA/CARDIOMYOPATHY
  • DYSPLASIA
  • PREVALENCE
  • 3111 Biomedicine
  • 3121 Internal medicine

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