<i>MCAT</i> Mutations Cause Nuclear LHON-like Optic Neuropathy

Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase (<i>MCAT</i>) 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, leadi...

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Bibliographic Details
Main Authors: Sylvie Gerber, Christophe Orssaud, Josseline Kaplan, Catrine Johansson, Jean-Michel Rozet
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/12/4/521