A number of epidemiological studies of mitochondrial disease have been carried out over
the last decade, clearly demonstrating that mitochondrial disorders are far more common …

Mitochondrial respiratory chain abnormalities are an important cause of neuromuscular
disease and may be due to defects of either the mitochondrial or nuclear genome. On …

Mitochondrial functions are intrinsically linked to their morphology and membrane
ultrastructure. Characterizing abnormal mitochondrial structural features may thus provide …

Objective The prevalence of mitochondrial disease has proven difficult to establish,
predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of …

Objective Diverse and variable clinical features, a loose genotype–phenotype relationship,
and presentation to different medical specialties have all hindered attempts to gauge the …

Mutations in nuclear genes involved in mitochondrial DNA (mtDNA) maintenance cause a
wide range of clinical phenotypes associated with the secondary accumulation of multiple …

Mitochondrial disease associated with the pathogenic m. 3243A> G variant is a common,
clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear …

At present there are limited therapeutic interventions for patients with mitochondrial
myopathies. Exercise training has been suggested as an approach to improve physical …

Despite being a canonical presenting feature of mitochondrial disease, the genetic basis of
progressive external ophthalmoplegia remains unknown in a large proportion of patients …

Background Autophagy is the major intracellular degradation route in mammalian cells.
Systemic ablation of core autophagy-related (ATG) genes in mice leads to embryonic or …