@Article{Finsterer2021,
journal="Polish Journal of Pathology",
issn="1233-9687",
volume="72",
number="2",
year="2021",
title="Adult-onset, isolated respiratory chain complex-IV deficiency with mild manifestations",
abstract="Isolated respiratory chain complex-IV deficiency (ICIVD) usually manifests clinically as an early-onset, severe, multisystem mitochondrial disorder (MID) and only rarely with mild manifestations. Here we present an adult patient with late onset ICIVD with slowly progressive, mild clinical manifestations.  In a 57-years old Caucasian male with exercise-induced myalgia, muscle cramps, ptosis, and recurrent creatine-kinase (CK) elevation, muscle biopsy and biochemical investigations of the left lateral vastus muscle revealed ICIVD. He additionally had developed diabetes, arterial hypertension, hyperlipidemia, retinal detachment, transient hypothyroidism, and a hearing fall. The family history was positive for diabetes, Parkinsonism, and dementia in the mother and myopathy in the brother, suggesting maternal transmission of the MID.    Conclusions:  ICIVD may manifest in adulthood with only mild manifestations and may take a slowly progressive course. Patients with mild hyper-CKemia and mild multisystem manifestations, including the muscle, profit from muscle biopsy   and biochemical investigations.",
author="Finsterer, Josef
and Winklehner, Michael",
pages="185--189",
doi="10.5114/pjp.2021.109523",
url="http://dx.doi.org/10.5114/pjp.2021.109523"
}