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Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST. Bryen SJ, et al. Among authors: witting n. Hum Mutat. 2020 Feb;41(2):403-411. doi: 10.1002/humu.23938. Epub 2019 Dec 3. Hum Mutat. 2020. PMID: 31660661 Free PMC article.
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Among authors: witting n. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.
Physical activity in myotonic dystrophy type 1.
Knak KL, Sheikh AM, Witting N, Vissing J. Knak KL, et al. Among authors: witting n. J Neurol. 2020 Jun;267(6):1679-1686. doi: 10.1007/s00415-020-09758-8. Epub 2020 Feb 17. J Neurol. 2020. PMID: 32065254
Permanent muscle weakness in hypokalemic periodic paralysis.
Holm-Yildiz S, Witting N, Dahlqvist J, de Stricker Borch J, Solheim T, Fornander F, Eisum AS, Duno M, Soerensen T, Vissing J. Holm-Yildiz S, et al. Among authors: witting n. Neurology. 2020 Jul 28;95(4):e342-e352. doi: 10.1212/WNL.0000000000009828. Epub 2020 Jun 24. Neurology. 2020. PMID: 32580975
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