POLG1突变的表型谱 - Suppr

Phenotypic spectrum of POLG1 mutations.

作者信息

Finsterer Josef, Scorza Fulvio A

机构信息

Krankenanstalt Rudolfstiftung, Postfach 20, 1180, Vienna, Austria.

Disciplina de Neurociência, Escola Paulista de Medicina/Universidade Federal de São Paulo (EPM/UNIFESP), São Paulo, Brazil.

出版信息

Neurol Sci. 2018 Mar;39(3):571-573. doi: 10.1007/s10072-017-3116-1. Epub 2017 Sep 13.

DOI:10.1007/s10072-017-3116-1

PMID:28905223

Abstract

摘要

相似文献

Phenotypic spectrum of POLG1 mutations.

Neurol Sci. 2018 Mar;39(3):571-573. doi: 10.1007/s10072-017-3116-1. Epub 2017 Sep 13.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18.

Replay to: Phenotypic spectrum of POLG1 mutations.

Neurol Sci. 2018 Mar;39(3):575. doi: 10.1007/s10072-017-3229-6. Epub 2018 Feb 2.

Liver pathology in hepato-cerebral mitochondrial depletion syndromes due to POLG1, DGUOK, 146or MPV17 variants.

Pol J Pathol. 2019;70(2):146-147. doi: 10.5114/pjp.2019.87107.

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

PLoS One. 2015 Oct 15;10(10):e0139846. doi: 10.1371/journal.pone.0139846. eCollection 2015.

Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.

J Neurol. 2021 Oct;268(10):3909-3912. doi: 10.1007/s00415-021-10650-2. Epub 2021 Jun 12.

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Metab Brain Dis. 2018 Aug;33(4):1369-1373. doi: 10.1007/s11011-018-0218-2. Epub 2018 Mar 25.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

J Neurol Sci. 2010 Mar 15;290(1-2):166-8. doi: 10.1016/j.jns.2009.12.001. Epub 2009 Dec 22.

[Mitochondrial DNA mutations and related human diseases].

Yi Chuan. 2007 Nov;29(11):1299-1308. doi: 10.1360/yc-007-1299.

Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.

Mitochondrion. 2024 May;76:101870. doi: 10.1016/j.mito.2024.101870. Epub 2024 Mar 11.

引用本文的文献

Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review.

Biology (Basel). 2022 Sep 2;11(9):1308. doi: 10.3390/biology11091308.

Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.

Neurol Sci. 2021 Oct;42(10):4271-4280. doi: 10.1007/s10072-021-05380-2. Epub 2021 Jun 29.

Cerebellar atrophy is common among mitochondrial disorders.

Metab Brain Dis. 2018 Aug;33(4):987-988. doi: 10.1007/s11011-018-0238-y. Epub 2018 May 1.

Replay to: Phenotypic spectrum of POLG1 mutations.

Neurol Sci. 2018 Mar;39(3):575. doi: 10.1007/s10072-017-3229-6. Epub 2018 Feb 2.

News on the journal Neurological Sciences in 2017.

Neurol Sci. 2018 Jan;39(1):15-21. doi: 10.1007/s10072-017-3241-x.

本文引用的文献

Mitochondrial dysfunction and oxidative stress in corneal disease.

Mitochondrion. 2017 Sep;36:103-113. doi: 10.1016/j.mito.2017.05.009. Epub 2017 May 23.

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Neurol Sci. 2017 Apr;38(4):563-570. doi: 10.1007/s10072-016-2734-3. Epub 2017 Jan 27.

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19.

Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.

J Peripher Nerv Syst. 2014 Dec;19(4):333-42. doi: 10.1111/jns.12099.

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

PLoS One. 2010 May 21;5(5):e10760. doi: 10.1371/journal.pone.0010760.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Phenotypic spectrum of POLG1 mutations.

Neurol Sci. 2018 Mar;39(3):571-573. doi: 10.1007/s10072-017-3116-1. Epub 2017 Sep 13.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18.

Replay to: Phenotypic spectrum of POLG1 mutations.

Neurol Sci. 2018 Mar;39(3):575. doi: 10.1007/s10072-017-3229-6. Epub 2018 Feb 2.

Liver pathology in hepato-cerebral mitochondrial depletion syndromes due to POLG1, DGUOK, 146or MPV17 variants.

Pol J Pathol. 2019;70(2):146-147. doi: 10.5114/pjp.2019.87107.

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

PLoS One. 2015 Oct 15;10(10):e0139846. doi: 10.1371/journal.pone.0139846. eCollection 2015.

Uncovering bilateral vestibulopathy in patients with SANDO syndrome caused by mutations in POLG gene: a case series.

J Neurol. 2021 Oct;268(10):3909-3912. doi: 10.1007/s00415-021-10650-2. Epub 2021 Jun 12.

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Metab Brain Dis. 2018 Aug;33(4):1369-1373. doi: 10.1007/s11011-018-0218-2. Epub 2018 Mar 25.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

J Neurol Sci. 2010 Mar 15;290(1-2):166-8. doi: 10.1016/j.jns.2009.12.001. Epub 2009 Dec 22.

[Mitochondrial DNA mutations and related human diseases].

Yi Chuan. 2007 Nov;29(11):1299-1308. doi: 10.1360/yc-007-1299.

Mitochondrion. 2024 May;76:101870. doi: 10.1016/j.mito.2024.101870. Epub 2024 Mar 11.

引用本文的文献

Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review.

Biology (Basel). 2022 Sep 2;11(9):1308. doi: 10.3390/biology11091308.

Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.

Neurol Sci. 2021 Oct;42(10):4271-4280. doi: 10.1007/s10072-021-05380-2. Epub 2021 Jun 29.

Cerebellar atrophy is common among mitochondrial disorders.

Metab Brain Dis. 2018 Aug;33(4):987-988. doi: 10.1007/s11011-018-0238-y. Epub 2018 May 1.

Replay to: Phenotypic spectrum of POLG1 mutations.

Neurol Sci. 2018 Mar;39(3):575. doi: 10.1007/s10072-017-3229-6. Epub 2018 Feb 2.

News on the journal Neurological Sciences in 2017.

Neurol Sci. 2018 Jan;39(1):15-21. doi: 10.1007/s10072-017-3241-x.

本文引用的文献

Mitochondrial dysfunction and oxidative stress in corneal disease.

Mitochondrion. 2017 Sep;36:103-113. doi: 10.1016/j.mito.2017.05.009. Epub 2017 May 23.

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Neurol Sci. 2017 Apr;38(4):563-570. doi: 10.1007/s10072-016-2734-3. Epub 2017 Jan 27.

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19.

Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.

J Peripher Nerv Syst. 2014 Dec;19(4):333-42. doi: 10.1111/jns.12099.

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

PLoS One. 2010 May 21;5(5):e10760. doi: 10.1371/journal.pone.0010760.

Phenotypic spectrum of POLG1 mutations.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献

本文引用的文献