Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion

Content Provider	Semantic Scholar
Author	Tulinius, Már H. Moslemi, A. R. Darín, Niklas Holme, Elisabeth Oldfors, Anders
Copyright Year	2005
Abstract	We describe the clinical, morphological and genetic findings in two siblings with the myopathic form of mitochondrial DNA depletion syndrome (MIM 251880). Sequencing of the thymidine kinase-2 gene revealed two heterozygous missense mutations, a C-->T mutation at nucleotide 191 resulting in a change of threonine to methionine at residue 64 in exon 3, and a C-->T mutation at nucleotide 547 resulting in an arginine to tryptophan amino acid change at residue 183 in exon 8. Both mutations changed highly conserved residues in the gene and neither one has been described previously. This report extends the phenotypic expression of mutations in the thymidine kinase-2 gene.
Starting Page	412
Ending Page	415
Page Count	4
File Format	PDF HTM / HTML
DOI	10.1016/j.nmd.2005.03.010
PubMed reference number	15907288
Journal	Medline
Volume Number	15
Alternate Webpage(s)	https://api.elsevier.com/content/article/pii/S096089660500115X
Alternate Webpage(s)	https://www.sciencedirect.com/science/article/pii/S096089660500115X?dgcid=api_sd_search-api-endpoint
Alternate Webpage(s)	https://doi.org/10.1016/j.nmd.2005.03.010
Journal	Neuromuscular Disorders
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article