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Article

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.

Journal of human genetics - 1 Jan 2020

Wiedemann Arnaud, Chery Céline, Coelho David, Flayac Justine, Gueguen Naïg, Desquiret-Dumas Valérie, Feillet François, Lavigne Christian, Neau Jean-Philippe, Fowler Brian, Baumgartner Matthias R, Reynier Pascal, Guéant Jean-Louis, Oussalah Abderrahim

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are characterized by lower extremity spasticity and weakness. HSP is often caused by mutations in SPG genes, but it may also be produced by inborn errors of metabolism. We performed next-generation sequencing of 4813 genes in one adult twin pair with HSP and severe muscular weakness occurring at the same age. We found two pathogenic compound heterozygous variants in MTHFR,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Methylenetetrahydrofolate Reductase (NADPH2)

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Identifiers

PMID: 31645654
DOI: 10.1038/s10038-019-0689-y

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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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