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Updated: Jul 2, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene

Emma Matthews1, Ella F Whittle2, Faraan Khan3

  • 1Atkinson-Morley Neuromuscular Centre, Department of Neurology, St George's University Hospitals NHS Foundation Trust, and Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK. e.matthews@sgul.ac.uk.

Journal of Human Genetics
|February 19, 2024
PubMed

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