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Page 1
A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.
Genes (Basel). 2022 Sep 28;13(10):1750. doi: 10.3390/genes13101750.
Genes (Basel). 2022.
PMID: 36292635
Free PMC article.
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Meshkov AN, Myasnikov RP, Kiseleva AV, Kulikova OV, Sotnikova EA, Kudryavtseva MM, Zharikova AA, Koretskiy SN, Mershina EA, Ramensky VE, Zaicenoka M, Vyatkin YV, Kharlap MS, Nikityuk TG, Sinitsyn VE, Divashuk MG, Kutsenko VA, Basargina EN, Barskiy VI, Sdvigova NA, Skirko OP, Efimova IA, Pokrovskaya MS, Drapkina OM.
Meshkov AN, et al. Among authors: myasnikov rp.
Front Cardiovasc Med. 2023 May 24;10:1205787. doi: 10.3389/fcvm.2023.1205787. eCollection 2023.
Front Cardiovasc Med. 2023.
PMID: 37342443
Free PMC article.
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Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY.
Marakhonov AV, et al. Among authors: myasnikov rp.
Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3.
Hum Mutat. 2019.
PMID: 30908796
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