Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. [electronic resource]
Producer: 20160609Description: 2366-74 p. digitalISSN:- 1552-4833
- Adult
- Cardiomyopathies -- complications
- Carrier Proteins -- genetics
- DNA Mutational Analysis
- Electron Transport Complex I -- genetics
- Electron Transport Complex II -- genetics
- Electron Transport Complex III -- genetics
- Electron Transport Complex IV -- genetics
- Female
- Gene Expression
- Homozygote
- Humans
- Intellectual Disability -- complications
- Male
- Membrane Potential, Mitochondrial -- genetics
- Middle Aged
- Mitochondria -- metabolism
- Mutation
- Optic Disk -- metabolism
- Optic Nerve Diseases -- complications
- Pedigree
- RNA, Transfer, Phe -- genetics
- RNA-Binding Proteins
- Visual Acuity
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.