[MELAS-Leigh superposition syndrome: a case report].

doi:10.3760/cma.j.issn.0578-1426.2020.02.009

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Article

[MELAS-Leigh superposition syndrome: a case report].

Zhonghua nei ke za zhi - 1 Feb 2020

Yang S, Sun C, Zhu W H

Abstract excerpt

报道1例由线粒体DNA（mtDNA）基因G13513A突变导致的MELAS-Leigh叠加综合征，并结合文献报道的8例MELAS-Leigh叠加综合征资料，对该病的临床、影像及基因特点进行总结。患者多在14岁前发病，相继表现出Leigh病和MELAS综合征的临床特征或者两种疾病特征交替出现；影像学可见累及基底节、脑干、小脑以及大脑皮层病灶；肌肉病理可见破碎红纤维和琥珀酸脱氢酶深染，致病基因多样化。.

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PMID: 32074688
DOI: 10.3760/cma.j.issn.0578-1426.2020.02.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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