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Article

A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.

CNS neuroscience & therapeutics - 1 Mar 2024

Xuan Xianjun, Ruan Jie, Wu Chunhong, Gao Yiyi, Li Lingfei, Lei Xiaoguang

Abstract excerpt

BACKGROUND: Mitochondrial complex III (CIII) deficiency is an autosomal recessive disease characterized by symptoms such as ataxia, cognitive dysfunction, and spastic paraplegia. Multiple genes are associated with complex III defects. Among them, the mutation of TTC19 is a rare subtype. METHODS: We screened a Chinese boy with weakness of limbs and his non-consanguineous parents by whole exome sequencing and...

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Identifiers

PMID: 37927170
DOI: 10.1111/cns.14425
PMCID: PMC10948947

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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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