… In the majority of cases, DOA is caused by OPA1 mutations,15 and more rarely by pathogenic
… [Database] Multisystem neurological disease is common in patients with OPA1 mutations. …

… patients with homozygous missense mutations in OPA1 have been reported to date [17, 18].
The missense mutation identified in our patient … OPA without any neurologic involvement. …

… mutations in POLG and SURF1 are most prevalent [48, 49], … tests, and screening for
multi-system involvement should be … neurological problems in patients with mitochondrial disease …

… response than patients with mtDNA mutations. Muscle … patients with a myopathic phenotype
are more prone to develop muscle pain, this is also observed in patients with a multi system …

… However, F2-II:2 and F8-II:1 showed typical optic nerve atrophy, while their fathers had a
normal … All 11 OPA1 mutations identified in this study are shown in the schematic diagram of the …

… have been implicated in various MDs, including OPA1 (3,4). … Mutations in the CL remodelling
enzyme Tafazzin (encoded … tissues of the CRLS1 patients (neurological and cardiac) vary …

… and a set of known OPA1 mutations to investigate their impact … : the MGM1/OPA1 chimera
yeast model and the Opa1−/− MEFs … nerve atrophy and ultimately to blindness [1,2]. Most DOA …

… Diseases” showed that ocular myopathy was more often … mutations, while it was less
common in patients with OPA1 … the most common inherited neurological disorder, affecting …

… common cause of disease in our large cohort of DOA patients harboring disease-causing
variants in OPA1… In silico splice predictions, heterologous splice assays, analysis of patient’s …

… and mtDNA mutations represent multi-system disease spectrums, … dominant optic atrophy
due to OPA1 (nDNA) variants. … Median survival from the onset of neurological symptoms is …