Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation

Authors: Birch, Camille L.; Wilk, Brandon M.; Gajapathy, Manavalan; Hutchins, Shaurita D.; Kaur, Gurpreet; Brown, Donna M.; Mamidi, Tarun K. K.; Hodgin, Kathleen S.; Turgut, Alp; Younger, Jarred W.; Worthey, Elizabeth A.

Journal of Translational Medicine, 24 Dec 2025

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Cohorts in this study

Phenotype: ME/CFS, Post-exertional malaise (PEM)

ACADM, ELOVL4, ENO3, GMPPB, HADHA, KCNJ18, MMACHC, MYH7, SLC12A3, SLC4A1, SPTA1

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Notes

Genes from: "Table 1. Prioritized molecular variants identified by participant. This table summarizes with likely or confirmed pathogenic molecular findings in 17 affected individuals from 13 families."