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Article

Progressive external ophthalmoplegia associated with novel MT-TN mutations.

Acta neurologica Scandinavica - 1 Jan 2021

Visuttijai Kittichate, Hedberg-Oldfors Carola, Lindgren Ulrika, Nordström Sara, Elíasdóttir Ólöf, Lindberg Christopher, Oldfors Anders

Abstract excerpt

OBJECTIVES: To describe two patients with progressive external ophthalmoplegia (PEO) and mitochondrial myopathy associated with mutations in mitochondrial DNA, encoding the tRNAAsn gene (MT-TN), which have not previously been published with clinical descriptions. MATERIALS & METHODS: Two unrelated patients with PEO were clinically examined. Muscle biopsy was performed and investigated by exome sequencing, enzyme...

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Identifiers

PMID: 32869280
DOI: 10.1111/ane.13339
PMCID: PMC7756270

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