Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.
Wiedemann A, Chery C, Coelho D, Flayac J, Gueguen N, Desquiret-Dumas V, Feillet F, Lavigne C, Neau JP, Fowler B, Baumgartner MR, Reynier P, Guéant JL, Oussalah A.
Wiedemann A, et al.
J Hum Genet. 2020 Jan;65(2):91-98. doi: 10.1038/s10038-019-0689-y. Epub 2019 Oct 23.
J Hum Genet. 2020.
PMID: 31645654
Review.
MTHFR and POLG mutations were consistent with the severe muscle weakness and the metabolic changes, including hyperhomocysteinemia and decreased activity of both N(5,10)methylenetetrahydrofolate reductase (MTHFR) and complexes I and II of the mitoch …
MTHFR and POLG mutations were consistent with the severe muscle weakness and the metabolic changes, including hyperhomocysteinemia and de …