A novel frameshift mutation in ADCK1 identified in a case of chronic fatigue syndrome successfully treated with oral 5-ALA/SFC

Authors: Koga, Tomohiro; Kita, Kiyoshi; Okumura, Junko; Yoshiura, Koh-ichiro; Kawakami, Atsushi

Immunological Medicine, 26 Dec 2024

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Phenotype: ME/CFS, ME/CFS - IOM 2015 Criteria, Post-exertional malaise (PEM)

ADCK1

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Notes

"We report the case of a 35-year-old Japanese woman with CFS who had experienced chronic fatigue since the age of 11 years. [...] Genetic analysis revealed a novel heterozygous frameshift deletion in ADCK1 (p.Asn280fs), a gene related to mitochondrial function, which was confirmed using cDNA sequencing."