Concepedia

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population

Pertti Jääskeläinen, Tiina Heliö, Katriina Aalto‐Setälä, Maija Kaartinen, Erkki Ilveskoski, Liisa Hämäläinen, John Melin, Markku S. Nieminen, Markku Laakso, Johanna Kuusisto

Annals of Medicine · 2012 · 44 citations · 22 references

DOIFull text

Open access

Abstract

The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Finnish population, indicating that routine genetic screening of these mutations is warranted in Finnish patients with HCM.

References

22

Hypertrophic Cardiomyopathy

Pascale Richard, Philippe Charron, Lucie Carrier et al. · Circulation · 2003 · 1.3K citations · Full text

α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere

Ludwig Thierfelder, Hugh Watkins, Calum A. MacRae et al. · Cell · 1994 · 1K citations

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Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Iacopo Olivotto, Francesca Girolami, Michael J. Ackerman et al. · Mayo Clinic Proceedings · 2008 · 325 citations

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Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

Sabine J. van Dijk, Dennis Dooijes, Cristobal G. dos Remedios et al. · Circulation · 2009 · 324 citations · Full text

Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy

Iacopo Olivotto, Francesca Girolami, Michael J. Ackerman et al. · Mayo Clinic Proceedings · 2008 · 296 citations

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