Carola Hedberg-Oldfors, Robert Meyer, Kay Nolte, Yassir Abdul Rahim, Christopher Lindberg, Kristjan Karason, Inger Johanne Thuestad, Kittichate Visuttijai, Mats Geijer, Matthias Begemann, Florian Kraft, Eva Lausberg, Lea Hitpass, Rebekka Götzl, Elizabeth J. Luna, Hanns Lochmüller, Steffen Koschmieder, Michael Gramlich, Burkhard Gess, Miriam Elbracht, Joachim Weis, Ingo Kurth, Anders Oldfors, Cordula Knopp. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain 2020; 143: 2406-2420. doi: 10.1093/brain/awaa206.
The authors apologize for an error in the ‘Molecular genetic analysis and western blotting’ section. The first sentence should read:
All affected patients from both families shared rare homozygous mutations in the supervillin gene (SVIL; OMIM: *604126, transcript NM_021738.2). Family 1 harboured a nonsense mutation in exon 27, c.4812C>A; p.Tyr1604*, which was not reported in genome databases (i.e. ExAC, gnomAD, 1000 Genomes Project, dbSNP151, ESP) (Fig. 7A, C and Supplementary Fig. 1A). This has been corrected.