Noncompaction and the novel variant c.425A>T in TPM1

Acta Cardiol. 2022 Oct;77(8):758-759. doi: 10.1080/00015385.2021.1954746. Epub 2021 Jul 26.

Authors

Josef Finsterer¹, Claudia Stöllberger², Franco Laccone³

Affiliations

¹ Messerli Institute, Klinik Landstrasse, Postfach 20, 1180 Vienna, Austria.
² 2nd Medical Department with Cardiology and Intensive Care Medicine, Klinik Landstrasse, Vienna, Austria.
³ Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.

PMID: 34309477
DOI: 10.1080/00015385.2021.1954746

No abstract available

Keywords: Tropomyosin; cardiac death; hypertrophic cardiomyopathy; non-compaction; skeletal muscle.

MeSH terms

Humans
Mutation
Pedigree
Tropomyosin* / genetics

Substances

TPM1 protein, human
Tropomyosin