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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 tidsskrift › Tidsskriftartikel › Forskning › peer review
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 (
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Neuromuscular disorders : NMD |
| Vol/bind | 24 |
| Udgave nummer | 2 |
| Sider (fra-til) | 162-6 |
| Antal sider | 5 |
| ISSN | 0960-8966 |
| DOI | |
| Status | Udgivet - feb. 2014 |
ID: 42978504