Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort

PURPOSE: This study aimed to describe the genetic and clinical characteristics of four Japanese patients with autosomal dominant optic atrophy (DOA) accompanied by auditory neuropathy and other systemic complications (i.e., DOA-plus disease). METHODS: Four patients from four independent families und...

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Detalles Bibliográficos
Autores principales: Maeda-Katahira, Akiko, Nakamura, Natsuko, Hayashi, Takaaki, Katagiri, Satoshi, Shimizu, Satoko, Ohde, Hisao, Matsunaga, Tatsuo, Kaga, Kimitaka, Nakano, Tadashi, Kameya, Shuhei, Matsuura, Tomokazu, Fujinami, Kaoru, Iwata, Takeshi, Tsunoda, Kazushige
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798706/
https://www.ncbi.nlm.nih.gov/pubmed/31673222

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