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Rigshospitalet - a part of Copenhagen University Hospital
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A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathy

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Most patients with mutations in the tRNA(lys) gene (MTTK) present with symptoms from the central nervous system (CNS). We describe a 41-year-old woman with pure myopathy associated with a novel de novo mtDNA mutation, mt.8340G>A, which was heteroplasmic in muscle (53%), blood, urine and mouth epithelial cells (
Original languageEnglish
JournalNeuromuscular disorders : NMD
Volume24
Issue number2
Pages (from-to)162-6
Number of pages5
ISSN0960-8966
DOIs
Publication statusPublished - Feb 2014

ID: 42978504