Ontology highlight
ABSTRACT:
SUBMITTER: Engvall M
PROVIDER: S-EPMC8027302 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Engvall Martin M Kawasaki Aki A Carelli Valerio V Wibom Rolf R Bruhn Helene H Lesko Nicole N Schober Florian A FA Wredenberg Anna A Wedell Anna A Träisk Frank F
Frontiers in neurology 20210325
Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing severe bilateral visual loss, typically in young adults. The disorder is commonly caused by one of three primary point mutations in mitochondrial DNA, but a number of other rare mutations causing or associated with the clinical syndrome of LHON have been reported. The mutations in LHON are almost exclusively located in genes encoding subunits of complex I in the mitochondrial respiratory chain. Here we report two patient ...[more]