Background Leigh syndrome is a phenotypically and genetically heterogeneous
mitochondrial disorder. While some genetic defects are associated with well-described …

Mitochondria are the primary generators of ATP in eukaryotic cells through the process of
oxidative phosphorylation. Mitochondria are also involved in several other important cellular …

Musculoskeletal graft versus host disease (GVHD) is a rare manifestation of chronic GVHD
(cGVHD) following allogeneic hematopoietic stem cell transplantation (allo-HSCT). Left …

Mutations in POLG, the gene encoding the catalytic subunit of the mitochondrial DNA
(mtDNA) polymerase gamma (Pol‐γ), lead to diseases driven by defective mtDNA …

Genetic matching potentially provides a means to alleviate the effects of incomplete
Mendelian randomization in population-based gene–disease association studies. We …

We describe a young woman with a group C streptococcal throat infection complicated by
rhabdomyolysis. Muscle biopsy from quadriceps was normal, and molecular studies showed …

A healthy man in his late 30s was found to have elevated ferritin levels, which raised
suspicion of haemochromatosis. He was treated for many years with phlebotomy, but in his …

DNA Polymerase gamma (POLG) is an enzyme that replicates and repairs mitochondrial
DNA. Mutations in the gene that codes for the catalytic subunit of the enzyme, the POLG …

Mutations in proteins affecting mtDNA maintenance have been found recently to be common
causes of neurodegeration. We present here a new common inherited ataxia, MIRAS …

En frisk mann fikk i slutten av 30-årene påvist forhøyet ferritinnivå, noe som ga mistanke om
hemokromatose. Han ble i mange år behandlet med årelating. I 50-årsalderen fikk han …