Double-troubled brothers with GNE myopathy and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-023-02221-1.pdf
Reference7 articles.
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2. Pogoryelova O, González Coraspe JA, Nikolenko N, Lochmüller H, Roos A (2018) GNE myopathy: from clinics and genetics to pathology and research strategies. Orphanet J Rare Dis 2(13):70
3. Rutten JW, Dauwerse HG, Gravesteijn G, van Belzen MJ, van der Grond J, Polke JM et al (2016) Archetypal notch3 mutations frequent in public exome: Implications for cadasil. Ann Clin Transl Neurol 3:844–853
4. Kim JH, Hwang SK, Kim JA, Park JS (2021) Concurrent antibody-mediated myasthenia gravis and myotonic dystrophy type 1. Acta Neurol Belg. https://doi.org/10.1007/s13760-021-01749-4
5. Filosto M, Lanzi G, Nesti C, Vielmi V, Marchina E, Galvagni A et al (2016) A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. Mol Genet Metab Rep 27(6):70–73
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