Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.

Petrovic Pajic, Sanja; Jarc-Vidmar, Martina; Fakin, Ana; Sustar Habjan, Maja; Brecelj, Jelka; Volk, Marija; Maver, Ales; Peterlin, Borut; Hawlina, Marko

Petrovic Pajic, Sanja; Jarc-Vidmar, Martina; Fakin, Ana; Sustar Habjan, Maja; Brecelj, Jelka; Volk, Marija; Maver, Ales; Peterlin, Borut; Hawlina, Marko.

Afiliación

Petrovic Pajic S; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Jarc-Vidmar M; Clinic for Eye Diseases, University Clinical Centre of Serbia, Belgrade, Serbia.
Fakin A; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Sustar Habjan M; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Brecelj J; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Volk M; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Hawlina M; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Front Neurol ; 13: 1003046, 2022.

Article en En | MEDLINE | ID: mdl-36388184

Palabras clave

152 A>G (p.Tyr51Cys) pathogenic variant; DNAJC30:c.152G>A gene; arLHON; color vision improvement; perimetry improvement; recessive optic neuropathy; visual acuity improvement

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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Front Neurol Año: 2022 Tipo del documento: Article País de afiliación: Eslovenia