A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

Autor:	I F, De Coo, W O, Renier, W, Ruitenbeek, H J, Ter Laak, M, Bakker, H, Schägger, B A, Van Oost, H J, Smeets
Rok vydání:	1999
Předmět:	Adult Male Blotting Southern Electron Transport Complex III Phenotype DNA Mutational Analysis MELAS Syndrome Humans Parkinson Disease Secondary Cytochrome b Group Gene Deletion Oxidative Phosphorylation Mitochondria
Zdroj:	Annals of neurology. 45(1)
ISSN:	0364-5134
Popis:	Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b) gene. In 1 patient, a young boy with an akinetic rigid syndrome and a mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), a novel 4-base pair deletion was identified. This mutation in this highly conserved gene is considered to be pathogenic since it is a heteroplasmic frame shift mutation predicted to lead to a truncated protein.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::01bd1e7d0438f251607de36d72274ea8 https://pubmed.ncbi.nlm.nih.gov/9894888 Zobrazit plný text záznamu Plný text