The central nervous system (CNS) is, after the peripheral nervous system, the second most
frequently affected organ in mitochondrial disorders (MCDs). CNS involvement in MCDs is …

Why is peripheral neuropathy common but mild in many mitochondrial disorders, and why is
it, in some cases, the predominant or only manifestation? Although this question remains …

In inflammatory central nervous system conditions such as multiple sclerosis, breakdown of
the blood–brain barrier is a key event in lesion pathogenesis, predisposing to oedema …

Mitochondrial neurogastrointestinal encephalomyopathy is a rare multisystemic autosomic
recessive disorder characterized by: onset typically before the age of 30 years; ptosis; …

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare metabolic
autosomal recessive disease, caused by mutations in the nuclear gene TYMP which …

BACKGROUND: Although causative mutations have been identified for numerous
mitochondrial disorders, few disease-modifying treatments are available. Two examples of …

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating
autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of …

Mitochondrial respiratory chain defects are an important cause of inherited disorders
affecting approximately 1 in 5000 people in the UK population. Collectively these disorders …

BACKGROUND & AIMS: Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder
caused by intestinal dysmotility and characterized by chronic symptoms suggesting bowel …

Mitochondrial disorders (MIDs) occasionally manifest as polyneuropathy either as the
dominant feature or as one of many other manifestations (inherited mitochondrial …