Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic Atrophy.

Authors :: Fang XJ
Zhang W
Lyu H
Wang ZX
Wang WW
Yuan Y
Source :: Chinese medical journal [Chin Med J (Engl)] 2017 Jan 20; Vol. 130 (2), pp. 242-244.
Publication Year :: 2017
Abstract: Competing Interests: There are no conflicts of interest.

Subjects :: Child
Female
Heterozygote
Humans
Mutation genetics
Hereditary Sensory and Motor Neuropathy genetics
Mitochondrial Proteins genetics
Optic Atrophy genetics
Peptide Termination Factors genetics

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