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Yoshida C, Kubota A, Kawamoto N, et al. A <i>de novo TWNK<\/i> variant mimicked sporadic chronic progressive external ophthalmoplegia. Intern Med. Forthcoming."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 64: 998-1000, 2007.","DOI":"10.1001\/archneur.64.7.998"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Nikali K, Suomalainen A, Saharinen J, et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 14: 2981-2990, 2005.","DOI":"10.1093\/hmg\/ddi328"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Bermejo-Guerrero L, de Fuenmayor-Fern\u00e1ndez de la Hoz CP, Serrano-Lorenzo P, et al. Clinical, histological, and genetic features of 25 patients with autosomal dominant progressive external ophthalmoplegia (ad-PEO)\/PEO-plus due to TWNK mutations. J Clin Med 11: 22, 2021.","DOI":"10.3390\/jcm11010022"},{"key":"5","unstructured":"5. Tafakhori A, Yu Jin Ng A, Tohari S, et al. Mutation in TWINKLE in a large Iranian family with progressive external ophthalmoplegia, myopathy, dysphagia and dysphonia, and behavior change. 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