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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.
Hum Mutat. 2019 Jun;40(6):734-741. doi: 10.1002/humu.23747. Epub 2019 Apr 3.
Hum Mutat. 2019.
PMID: 30908796
[The morbidity with temporary disability and its regional characteristics in the Russian Federation in 2000-2018].
Mirgorodskaya OV, Schepin VO, Koretsky SN.
Mirgorodskaya OV, et al. Among authors: koretsky sn.
Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med. 2021 Nov;29(6):1459-1469. doi: 10.32687/0869-866X-2021-29-6-1459-1469.
Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med. 2021.
PMID: 34882318
Russian.
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