… of nerve fibers on the temporal side of the optic nerve disc … fibroblasts from patients with
specific OPA1 mutations leading … cases with biallelic OPA1 mutations and severe multisystemic …

… (MIM #603850), is implicated in several neurological disorders characterized by early onset
… deletions only in the OPA1 mutated patient and no in the DNM1L patients (data not shown). …

… of OPA1 mutations and all the mtDNA point mutations showed a … were the most frequent
extra-neurological traits. Survival … or myopathy or multi-system disease Autosomal recessive …

… these disorders among the most common adult forms of inherited neurological disease (1). …
Analogous to OPA1 mutations, MFN2 mutations have been associated with the syndromic …

… RGCs and the optic nerve are the solely affected tissue in most patients. Therefore, studies of
… OPA1 mutation on iPSC-RGC bioenergetic output, we explored the effect of OPA1 mutation …

… neurological disease. … of OPA1 mutations are inherited in an autosomal dominant manner,
there are examples of individuals carrying 2 apparently recessive pathogenic OPA1 mutations…

… has also been observed in patients with OPA1 mutations. … Description : Krabbe disease
is a neurological disorder, … -coloboma syndrome: a multi-system developmental disorder …

… , while the retina remains normal; and (iii) the loss of the layer of retinal nerve fibers objectified
by … caused by pathogenic OPA1 variants (8–10) and less frequently by mutations in other …

… The large majority of mutations in the OPA1 gene are related with a slowly … to OPA1 mutations
in about 60–70% of cases [139,153]. It is caused by the degeneration of optic nerve fibers …

… Multisystem neurological dis ease is com mon in patients with … Novel OPA1 missense
mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthal…