TK2-related Myopathic Mitochondrial Depletion Syndrome
Author:
Affiliation:
1. Krankenanstalt Rudolfstiftung, Vienna, Austria
2. Pasteur Institute of Tunis, University of Tunis El Manar and Genomics Platform, Tunis, Tunisia
Publisher
SAGE Publications
Subject
General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health
Link
http://journals.sagepub.com/doi/pdf/10.1177/1093526617743906
Reference6 articles.
1. Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene
2. NovelTK2mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome
3. 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
4. Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations
5. Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report;BMC Medical Genetics;2019-08-27
2. Author’s Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome;Pediatric and Developmental Pathology;2017-11-27
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