ArticleJournal of human genetics2024
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.
Article in Journal of human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect.Molecular genetics and metabolism reports · 2026Article
- Pmpcb modulates zebrafish neurogenesis and stress resistance via regulating mitochondria metabolism and function.Molecular neurobiology · 2026Article
- Clinical and genetic analysis of multiple mitochondrial dysfunctions syndrome type 6 caused by biallelicFrontiers in pediatrics · 2026Article
- LRRK2-mediated mitochondrial dysfunction in Parkinson's disease.The Biochemical journal · 2025Review
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and epilepsy. Three of the five died in childhood and none was older than age six when described. We report the first splice site variant in the PMPCB gene in a 39-year old individual who experienced developmental regression and ataxia following otitis media in childhood. A minigene assay confirms this variant results in aberrant splicing and skipping of exon 12.
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Registered trials
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