Ontology highlight
ABSTRACT:
SUBMITTER: Ranieri M
PROVIDER: S-EPMC3315002 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Ranieri Michela M Del Bo Roberto R Bordoni Andreina A Ronchi Dario D Colombo Irene I Riboldi Giulietta G Cosi Alessandra A Servida Maura M Magri Francesca F Moggio Maurizio M Bresolin Nereo N Comi Giacomo P GP Corti Stefania S
Journal of the neurological sciences 20111222 1-2
Autosomal Dominant Optic Atrophy (ADOA) is characterized by the selective degeneration of retinal ganglion cells. The occurrence of mutations in the gene encoding the dynamin-like GTPase protein Optic Atrophy 1 (OPA1) has been observed in about 60-70% of ADOA cases. A subset of missense mutations, mostly within the GTPase domain, has recently been associated with a syndromic ADOA form called "OPA1 plus" phenotype presenting, at muscle level, mitochondrial DNA (mtDNA) instability. In this study w ...[more]