mtDNA deletion m.8753_16566 with < 10 % heteroplasmy in muscle and isolated complex-V dysfunction misinterpreted as chronic fatigue syndrome over 21-years

Authors: Finsterer, Josef; Fiorini, Ana C.; Scorza, Fulvio A.; Scorza, Carla A.

Clinics, Jan 2025

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Notes

"The patient is a 52-year-old woman who was diagnosed with myalgic ME/CFS at the age of 25 after an infection with parvovirus B19 and has not been the same since. For the past twenty-one years, she has suffered from chronic fatigue, exercise intolerance, and post-exertional malaise and has been mostly housebound and often bedbound (up to 22 h per day)."

"An mtDNA analysis from muscle at 46 years of age revealed the m.8753_16,566 deletion with <10 % heteroplasmy. The deletion was larger than in patients with KSS but encompassed the entire ATP6 gene associated with complex-V of the respiratory chain."