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- W2799749682 abstract "Desmin-related myopathy (DRM) is a rare condition characterized by skeletal muscle weakness with frequent cardiac involvement because of abnormalities of desmin, which is the main component of intermediate filament protein expressed in skeletal, cardiac, and smooth muscle. The clinical manifestations of DRM have been reported to be highly variable. The present article highlights a specific desmin variant (DES, c.1360C>T; p.Arg454Trp) in 2 unrelated cases, which is highly penetrant, portends poor prognosis, and warrants careful electrophysiological evaluation." @default.
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- W2799749682 date "2018-07-01" @default.
- W2799749682 modified "2023-10-03" @default.
- W2799749682 title "Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy" @default.
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- W2799749682 doi "https://doi.org/10.1016/j.hrcr.2018.04.007" @default.
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