Case Report: A Novel Mutation in the Mitochondrial <i>MT-ND5</i> Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).

Engvall, Martin; Kawasaki, Aki; Carelli, Valerio; Wibom, Rolf; Bruhn, Helene; Lesko, Nicole; Schober, Florian A; Wredenberg, Anna; Wedell, Anna; Träisk, Frank

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON).

Engvall, Martin; Kawasaki, Aki; Carelli, Valerio; Wibom, Rolf; Bruhn, Helene; Lesko, Nicole; Schober, Florian A; Wredenberg, Anna; Wedell, Anna; Träisk, Frank.

Afiliación

Engvall M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Kawasaki A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Carelli V; Hopital Ophtalmique Jules Gonin, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland.
Wibom R; Programma di Neurogenetica, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Bruhn H; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Lesko N; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Schober FA; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Wredenberg A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Wedell A; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Träisk F; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Front Neurol ; 12: 652590, 2021.

Article en En | MEDLINE | ID: mdl-33841319

Palabras clave

LHON; MT-ND5; case report; complex 1; leber hereditary optic neuropathy; mitochondrial DNA; optic neuropathy

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Front Neurol Año: 2021 Tipo del documento: Article País de afiliación: Suecia

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