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Novel IBA57 mutations in two chinese patients and literature review of multiple mitochondrial dysfunction syndrome.

Metabolic brain disease - 1 Feb 2022

Zhan Feixia, Liu Xiaoli, Ni Ruilong, Liu Taotao, Cao Yuwen, Wu Jingying, Tian Wotu, Luan Xinghua, Cao Li

Abstract excerpt

Multiple mitochondrial dysfunction syndrome (MMDS) refers to a class of mitochondrial diseases caused by nuclear gene mutations, which usually begins in early infancy and is classically characterized by markedly impaired neurological development, generalized muscle weakness, lactic acidosis, and hyperglycinemia, cavitating leukoencephalopathy, respiratory failure, as well as early fatality resulted from...

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PMID: 34709542
DOI: 10.1007/s11011-021-00856-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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