NovelTK2mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome-Reference-Cited by-同舟云学术

NovelTK2mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome

Published:2016-09-14 Issue:5 Volume:2 Page:e95
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Termglinchan Thanes,Hisamatsu Seito,Ohmori Junko,Suzumura Hiroshi,Sumitomo Noriko,Imataka George,Arisaka Osamu,Murakami Nobuyuki,Minami Narihiro,Akihiko Ishiyama,Sasaki Masayuki,Goto Yuichi,Noguchi Satoru,Nonaka Ikuya,Mitsuhashi Satomi,Nishino Ichizo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),Clinical Neurology

Reference5 articles.

1. 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

2. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

3. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

4. New Mutations in TK2 Gene Associated With Mitochondrial DNA Depletion

5. Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1);Poulton;Biochim Biophys Acta,2009

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4. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect;Molecular Genetics and Metabolism;2018-06

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