Complex I deficiency is the most frequently encountered single mitochondrial single enzyme
deficiency in patients with a mitochondrial disorder. Although specific genotype–phenotype …

Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation
disorder described. It shows a wide range of phenotypes with poor correlation within …

Riboflavin, known as vitamin B2, a water-soluble vitamin, is an essential nutrient in
vertebrates, hence adequate dietary intake is imperative. Riboflavin plays a role in a variety …

Background Pathogenic variants in NDUFV1 gene disrupt mitochondrial complex I, leading
to neuro-regression with leukoencephalopathy and basal ganglia involvement on …

Background We aimed to delineate the pattern of natural course, neuroimaging features,
and the genotypic spectrum of cavitating leukoencephalopathies. Methods Children (age of …

Aims Mitochondrial dysfunction is an important part of the decline in cardiac function in heart
failure. We hypothesized for hypothesized that there would be specific abnormalities in …

We report clinical, metabolic, genetic and neuroradiological findings in five patients from
three different families with isolated complex I deficiency. Genetic analysis revealed …

Pathogenic variants in the NDUFV1 gene, which codes for complex I of the mitochondrial
respiratory chain, have been associated with a variety of clinical phenotypes, including a …

Background Two siblings with hypertrophic cardiomyopathy and brain atrophy were
diagnosed with Complex I deficiency based on low enzyme activity in muscle and high …

Background Progressive cavitating leukoencephalopathy (PCL) is thought to result from
mutations in nuclear genes affecting mitochondrial function and energy metabolism. To date …