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Progressive external ophthalmoplegia associated with novel MT‐TN mutations

OBJECTIVES: To describe two patients with progressive external ophthalmoplegia (PEO) and mitochondrial myopathy associated with mutations in mitochondrial DNA, encoding the tRNA(Asn) gene (MT‐TN), which have not previously been published with clinical descriptions. MATERIALS & METHODS: Two unrel...

詳細記述

保存先:
書誌詳細
出版年:Acta Neurol Scand
主要な著者: Visuttijai, Kittichate, Hedberg‐Oldfors, Carola, Lindgren, Ulrika, Nordström, Sara, Elíasdóttir, Ólöf, Lindberg, Christopher, Oldfors, Anders
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7756270/
https://ncbi.nlm.nih.gov/pubmed/32869280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ane.13339
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