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Letter to the Editor From Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".

作者信息

Finsterer Josef

机构信息

Neurology Department, Neurology & Neurophysiology Center, Vienna 1180, Austria.

出版信息

JCEM Case Rep. 2025 Jul 1;3(8):luaf127. doi: 10.1210/jcemcr/luaf127. eCollection 2025 Aug.

DOI:10.1210/jcemcr/luaf127
PMID:40599484
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12209709/
Abstract
摘要

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Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an point mutation: Neuroradiological features and their implications for underlying pathogenesis.伴有乳酸酸中毒和卒中样发作的线粒体脑肌病伴单点突变:神经放射学特征及其对潜在发病机制的影响
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Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype.致病性线粒体DNA 3243A>G突变:从遗传学到表型
Front Genet. 2022 Oct 6;13:951185. doi: 10.3389/fgene.2022.951185. eCollection 2022.
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The heart in m.3243A>G carriers.3243A>G突变携带者的心脏。
Herz. 2020 Jun;45(4):356-361. doi: 10.1007/s00059-018-4739-6. Epub 2018 Aug 20.
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[A case of MELAS associated with histochemical findings of muscles characteristic of MERRF].[一例与肌阵挛性癫痫伴破碎红纤维(MERRF)特征性肌肉组织化学表现相关的线粒体脑肌病伴乳酸酸中毒及卒中样发作(MELAS)]
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