… Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol
… Multisystem neurological disease is common in patients with OPA1 mutations. Brain. 2010; …

… mitochondrial DNA mutation in adult patients. The significant … , the most common form of
recessive ataxia with multi-system … and Optic atrophy 1 (Opa1) in the inner membrane. The main …

… Neurological and neuromuscular syndromes are the most … Common diseases associated
with mtDNA mutations and the … MNGIE is a progressive multi-system disorder with various …

… The majority of families have OPA-1 mutations, mutations in OPA-3 being much less …
Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010; 133: 771…

… patients with OPA1 mutations present with symmetrical temporal optic atrophy or diffused
optic nerve … The most common mutational type of the novel OPA1 mutations (9/11) in this study …

… conditions is important. The purpose of this review is to highlight common examples of the
neuro… , caused predominantly by mutations in the OPA1 gene (OMIM 605290), and is the most …

… neurological impairments. We used targeted metabolomics to explore the different signatures
of OPA1 variants expressed in Opa1 … cloned mutated cDNAs of the human OPA1 isoform 1 (…

… At the mRNA level we found no changes in the amount of OPA1 transcript among mutation
… of the OPA1 mutant transcript. Our study identifies a novel pathogenic OPA1 mutation and …

… OPA1 spectrum disease RGCs are particularly sensitive to the deleterious consequences
of OPA1 mutations resulting in optic nerve degeneration and visual loss. In a large multicenter …

… with proven de novo mutations in OPA1 have been described [… old male patient with severe
early onset manifestation of OPA1-… as the causes of neurological diseases, skin diseases and …