In patients with mitochondrial DNA (mtDNA) mutation, a pathogenic mtDNA mutation is
heteroplasmically distributed among tissues. The ratio between wild-type and mutated …

Mutations in mitochondrial DNA (mtDNA) cause disruption of the oxidative phosphorylation
chain and impair energy production in cells throughout the human body. Primary …

Mutations in the CACNA1A gene can cause familial hemiplegic migraine (FHM) and/or
cerebellar ataxia. CACNA1A codes for the α1 subunit of P/Q‐Ca2+ channels and is highly …

In vitro studies of isolated skeletal muscle have shown that oxidative stress is limiting with
respect to contractile function. Mitochondria are a potential source of muscle function-limiting …

We present a male patient carrying a pathogenic MECP2 p. Arg179Trp variant with
predominant negative psychiatric features and multilevel evidence of mitochondrial …

Background Mitochondrial dysfunction and an elevation of lactate are observed in patients
with schizophrenia (SZ). However, it is unknown whether mitochondrial dysfunction is …

Fever is associated with poor outcome in acute stroke. Forty-two consecutive, normothermic
patients with acute ischemic stroke were, within 24 hours from symptom onset, randomized …

Background Cardiopulmonary exercise testing with lactate and ammonia samples is used in
the diagnostics of metabolic myopathies. As the effect of age and sex on the exercise lactate …

In a 33-year-old man, mitochondriopathy was diagnosed upon short stature, auditory
impairment, gynaecomastia, hypogonadism, vertical ophthalmoplegia, cerebral atrophy …

Cycle exercise has repeatedly been used to diagnose patients suspected of having
mitochondrial myopathy (MM), in whom exercise intolerance and lactic acidosis are …