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10.1016/j.phrs.2021.105694 49 LissnerD.SchumannM.BatraA.KredelL

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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