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

BACKGROUND: We present the disease course and long-term follow-up of two patients who were phenotypically diagnosed with atypical Leber Hereditary Optic Neuropathy (LHON) 14 and 12 years ago, respectively, whereby whole exome sequencing revealed recently described recessive DNAJC30:c.152G>A 152 A...

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Detalles Bibliográficos
Autores principales: Petrovic Pajic, Sanja, Jarc-Vidmar, Martina, Fakin, Ana, Sustar Habjan, Maja, Brecelj, Jelka, Volk, Marija, Maver, Ales, Peterlin, Borut, Hawlina, Marko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649972/
https://www.ncbi.nlm.nih.gov/pubmed/36388184
http://dx.doi.org/10.3389/fneur.2022.1003046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649972/
https://www.ncbi.nlm.nih.gov/pubmed/36388184
http://dx.doi.org/10.3389/fneur.2022.1003046

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