<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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-04-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/12/4/521 |