Article
Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.
Human molecular genetics - 1 Feb 2020
Li Huiping, Yuan Shiqin, Minegishi Yuriko, Suga Akiko, Yoshitake Kazutoshi, Sheng Xunlun, Ye Jianping, Smith Stuart, Bunkoczi Gabor, Yamamoto Megumi, Iwata Takeshi
Abstract excerpt
Inherited optic neuropathies are rare eye diseases of optic nerve dysfunction that present in various genetic forms. Previously, mutation in three genes encoding mitochondrial proteins has been implicated in autosomal recessive forms of optic atrophy that involve progressive degeneration of optic nerve and retinal ganglion cells (RGC). Using whole exome analysis, a novel double homozygous mutation p.L81R and...
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