Исследование связи мутации R249Q гена MYH7 с внезапной сердечной смертью
Аннотация
Ключевые слова
Об авторах
А. А. ИвановаРоссия
В. Н. Максимов
Россия
С. В. Савченко
Россия
М. И. Воевода
Россия
Список литературы
1. Martens E, Sinner MF, Siebermair J et al. Incidence of sudden cardiac death in Germany: results from an emergency medical service registry in LowerSaxony. Europace.2014;16(12):1752-1758.
2. Priori SG, Aliot E, Blшmstrom-Lundqvist C et al. Task Force on Sudden Cardiac Death,European Society of Cardiology. Summary of Recommendations. Europace. 2002;4:3-18.
3. Narula N, Tester DJ, Paulmichl A et al. Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series. Pediatr Cardiol. 2015;36(4):768-78.
4. Hertz CL, Christiansen SL, Ferrero-Miliani L et al. Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases. Int J Legal Med. 2015;129(4):793-800.
5. Brion M, Blanco-Verea A, Sobrino B et al. Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014; 35(21-22): 3111-6.
6. Loporcaro CG, Tester DJ, Maleszewski JJ et al. Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing. Arch Pathol Lab Med. 2014;138(8):1083-9.
7. Blair E, Redwood C, de Jesus Oliveira M et al. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res. 2002;90(3):263-9.
8. Watkins H, Rosenzweig A, Hwang DS et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326(17):1108-14.
9. Woo A, Rakowski H, Liew JC et al. Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart. 2003;89(10):1179-85.
10. Greber-Platzer S, Marx M, Fleischmann C et al. Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. J Mol Cell Cardiol. 2001;33(1):141-8.
Для цитирования:
Иванова А.А., Максимов В.Н., Савченко С.В., Воевода М.И. Исследование связи мутации R249Q гена MYH7 с внезапной сердечной смертью. Медицинская генетика. 2016;15(4):43-45. https://doi.org/10.1234/XXXX-XXXX-2016-4-43-45
For citation:
Ivanova A.A., Maksimov V.N., Savchenko S.V., Voevoda M.I. The association of the MYH7 gene R249Q mutation with sudden cardiac death. Medical Genetics. 2016;15(4):43-45. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-4-43-45