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Article

Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.

Molecular genetics & genomic medicine - 1 Jun 2024

Xu Hai, Ma Kai, Gao Yuye, Song Qijun, Chen Chaojin, Xu Xiao, Peng Jiaxi, Sun Yan

Abstract excerpt

OBJECTIVE: To further comprehend the phenotype of multiple mitochondrial dysfunction syndrome type 3 (MMDS3:OMIM#615330) caused by IBA57 mutation. We present a case involving a patient who experienced acute neurological regression, and the literature was reviewed. METHODS: Clinical data and laboratory test results were collected; early language and development progress were tested; and genetic testing was...

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PMID: 38923322
DOI: 10.1002/mgg3.2485
PMCID: PMC11199327

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