Reply to: Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype.

Ozawa, Kenji; Mochizuki, Kiyofumi; Manabe, Yusuke; Yoshikura, Nobuaki; Shimohata, Takayoshi; Nishino, Ichizo; Goto, Yu-Ichi

Ozawa, Kenji; Mochizuki, Kiyofumi; Manabe, Yusuke; Yoshikura, Nobuaki; Shimohata, Takayoshi; Nishino, Ichizo; Goto, Yu-Ichi.

Afiliación

Ozawa K; Department of Ophthalmology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu-shi, 501-1194, Japan. kj-ozawa@umin.ac.jp.
Mochizuki K; Department of Ophthalmology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu-shi, 501-1194, Japan.
Manabe Y; Department of Ophthalmology, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu-shi, 501-1194, Japan.
Yoshikura N; Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu-shi, 501-1194, Japan.
Shimohata T; Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu-shi, 501-1194, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Tokyo, Japan.
Goto YI; Mental Retardation and Birth Defect Research, National Institute of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Tokyo, Japan.

Doc Ophthalmol ; 138(3): 257-258, 2019 06.

Article en En | MEDLINE | ID: mdl-30929107

Asunto(s)

Síndrome MELAS/genética; Distrofias Retinianas; ADN Mitocondrial; Electrorretinografía; Humanos; Fenotipo; Eliminación de Secuencia

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Síndrome MELAS / Distrofias Retinianas Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Doc Ophthalmol Año: 2019 Tipo del documento: Article País de afiliación: Japón

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