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New mutations in TK2 gene associated with mitochondrial DNA depletion.
Pediatr Neurol. 2006 Mar;34(3):177-85. doi: 10.1016/j.pediatrneurol.2005.07.013.
Pediatr Neurol. 2006.
PMID: 16504786
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.
Knierim E, Seelow D, Gill E, von Moers A, Schuelke M.
Knierim E, et al.
Mitochondrion. 2015 Jan;20:1-6. doi: 10.1016/j.mito.2014.10.007. Epub 2014 Nov 4.
Mitochondrion. 2015.
PMID: 25446393
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