Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng, Yanyan

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. [electronic resource] - Human molecular genetics 12 2017 - 4937-4950 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddx377 doi


Adolescent
Alleles
Animals
Child
Child, Preschool
Electron Transport
Female
Ferredoxins--genetics
Humans
Infant
Iron--metabolism
Iron-Sulfur Proteins--genetics
Male
Mice
Mitochondria--genetics
Mitochondrial Membranes--metabolism
Mutagenesis
Mutation
Optic Atrophy--genetics
Oxidoreductases--genetics
Pedigree
Sulfite Reductase (Ferredoxin)--genetics
Exome Sequencing--methods