Abstract Vitamin B12 (cobalamin, Cbl) is a nutrient essential to human health. Due to its
complex structure and dual cofactor forms, Cbl undergoes a complicated series of …

Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This
neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations …

The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …

2014 BMA Medical Book Awards Highly Commended in Pathology category! Muscle Biopsy:
A Practical Approach gives you all of the unparalleled guidance necessary to effectively …

Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically
heterogeneous group of autosomal recessive disorders that are characterized by a severe …

Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the
focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) …

A large group of mitochondrial disorders, ranging from early-onset pediatric
encephalopathic syndromes to late-onset myopathy with chronic progressive external …

Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating
neurodegenerative disorder, characterized by almost identical brain changes, eg, focal …

To explore the lethal, ataxic phenotype of complex I deficiency in Ndufs4 knockout (KO)
mice, we inactivated Ndufs4 selectively in neurons and glia (NesKO mice). NesKO mice …

Mitochondria are cytoplasmic organelles, which generate energy as heat and ATP, the
universal energy currency of the cell. This process is carried out by coupling electron …