… When associated with OPA1 mutations, DOA can present not … DOA plus often results from
point 27 mutations in the GTPase … mutant hOPA1 forms in the optic nerve of 35 dOPA1 mutants, …

… disorders are neurological and neuromuscular manifestations … with PEO, distal myopathy,
Parkinsonism and multisystem … Mutation of OPA1 causes dominant optic atrophy with external …

… The neurological examination was normal in all OPA1 patients in this cohort and did not identify
… -ophthalmological manifestations reported in some OPA1 mutation positive patients [35]. …

… a frequent mutation in people with ataxia in the Norwegian population (1 in 100 people in
Norway have this mutation … manifesting autosomal recessive POLG mutations had a population …

… These patients indeed present additional neurological complications and a 2‒3-fold
increased risk of developing multisystem neurological disease with missense OPA1 mutations …

… of OPA1 variants on the central nervous system with the differentiation of mutant iPSCs into
… properties in mouse models of optic nerve disease such as glaucoma and traumatic optic …

… phenotypes in which central nervous system involvement such as … common findings in the
muscle biopsies of patients with OPA1 mutations [47], demonstrating the importance of OPA1 …

… to multi-system disease. Almost all of the mtDNA depletion … disease has only recently been
linked to OPA1 mutations, … selected patients though it does not help with the neurological …

… associated with the disease. Our findings revealed that fibroblasts with the OPA1 mutation
exhibited a disrupted … Multi-system neurological disease is common in patients with …

… OPA1 shapes mitochondrial morphology and show us how human disease mutations
compromise OPA1 … molecular explanations for the pathologies associated with OPA1 mutations. …