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Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

A novel de novo mutation of the mitochondrial tRNA(lys) gene mt.8340G>A associated with pure myopathy

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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Vis graf over relationer
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 (
OriginalsprogEngelsk
TidsskriftNeuromuscular disorders : NMD
Vol/bind24
Udgave nummer2
Sider (fra-til)162-6
Antal sider5
ISSN0960-8966
DOI
StatusUdgivet - feb. 2014

ID: 42978504