Akiko Maeda-Katahira Natsuko Nakamura Takaaki Hayashi Satoshi Katagiri Satoko Shimizu Hisao Ohde Tatsuo Matsunaga Kimitaka Kaga Tadashi Nakano Shuhei Kameya Tomokazu Matsuura Kaoru Fujinami Takeshi Iwata Kazushige Tsunoda
Mol Vis
2019 Oct 5;25:559-573.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/31673222/
Asian People / genetics GTP Phosphohydrolases / genetics Hearing Loss, Central / complications Hearing Loss, Central / genetics Mutation / genetics Optic Atrophy, Autosomal Dominant / complications Optic Atrophy, Autosomal Dominant / genetics
Asian People / genetics GTP Phosphohydrolases / genetics Hearing Loss, Central / complications Hearing Loss, Central / genetics Mutation / genetics Optic Atrophy, Autosomal Dominant / complications Optic Atrophy, Autosomal Dominant / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Child Child, Preschool Cohort Studies Female Fundus Oculi Humans Japan Male Optic Atrophy, Autosomal Dominant / physiopathology Pedigree Visual Fields Young Adult GTP Phosphohydrolases OPA1 protein, human Auditory neuropathy
PMC6798706
31673222
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort
2019