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 …

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

In this retrospective, multicentre, observational cohort study, we sought to determine the
clinical, radiological, EEG, genetics and neuropathological characteristics of mitochondrial …

Mitochondrial diseases affect> 1 in 7500 live births and may be due to mutations in either
mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Genetic counselling for families with …

Mutations in the m. 13094T> C MT-ND5 gene have been previously described in three
cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified …

Objectives The m. 3243A> G MTTL1 mutation is the most common cause of mitochondrial
disease; yet there is limited awareness of intestinal pseudo‐obstruction (IPO) in this …

The first licences permitting mito chondrial donation were issued in late 2017 by the Human
UK Fertilization and Embryo Authority (HFEA), the statutory authority charged with reg …

Context Abnormal growth and short stature are observed in patients with mitochondrial
disease, but it is unclear whether there is a relationship between final adult height and …

Primary mitochondrial disorders encompass a wide range of clinical presentations and a
spectrum of severity. They currently lack effective disease‐modifying therapies and have a …