MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy

Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase (MCAT) gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by insidious optic nerve degeneration in childhood, leading to blindness in...

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Detalles Bibliográficos
Autores principales: Gerber, Sylvie, Orssaud, Christophe, Kaplan, Josseline, Johansson, Catrine, Rozet, Jean-Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067165/
https://www.ncbi.nlm.nih.gov/pubmed/33918393
http://dx.doi.org/10.3390/genes12040521

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8067165/
https://www.ncbi.nlm.nih.gov/pubmed/33918393
http://dx.doi.org/10.3390/genes12040521

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