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[Mitochondrial complexⅠdeficiency nuclear type 20 caused by compound heterozygous ACAD9 mutations: a case report].

Zhonghua xin xue guan bing za zhi - 24 Jul 2026

Wang Q, Ji Z M, Yang F, Chen J L, Yin J, Yang S W

Abstract excerpt

线粒体复合物Ⅰ缺乏症20型是一种罕见的遗传性多系统疾病。该文报道1例婴儿期起病、以室性心动过速为首发症状，临床表现为肥厚型心肌病及高乳酸血症的患儿，基因检测证实其携带ACAD9复合杂合变异，变异位点为c.1737TG和c.1552CT。.

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Source

Identifiers

PMID: 42452928
DOI: 10.3760/cma.j.cn112148-20251113-00798

Genes

ACAD9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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