Ontology highlight
ABSTRACT:
SUBMITTER: Bianco A
PROVIDER: S-EPMC5953227 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Bianco Angelica A Bisceglia Luigi L Trerotoli Paolo P Russo Luciana L D'Agruma Leonardo L Guerriero Silvana S Petruzzella Vittoria V
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 20170901 3
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder that causes severe loss of sight in young adults, and is typically associated to mitochondrial DNA (mtDNA) mutations. Heteroplasmy of primary LHON mutations, presence of 'ancillary' mtDNA mutations, and mtDNA copy number are probably correlated with the penetrance and the severity of the disease. In this study, we performed a mutational screening in an Apulian cohort of LHON patients and we found that 41 out of 54 subj ...[more]