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G.BanksW
369,370 Although no cases of bi-allelic homozygous OPA1 mutations have been reported, bi-allelic compound heterozygous mutations have been observed and are associated with ADOA-plus (or Behr syndrome), 371,372 which presents with additional multisystemic features beyond the optic neuropathy
Mol Membr Biol (2011) 28:47386
1986;50(Suppl
Lancet 383, 245254
Recently, decreased levels of reduced and oxidized glutathione, as well as of glutathione-metabolizing enzyme activities, were reported in erythrocytes of individuals with MCS
