Journal article icon

Journal article

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

Abstract:

Maternally-inherited mitochondrial DNA (mtDNA) mutations cause symptoms of Leber’s hereditary optic neuropathy (LHON) in~ 1 in 30,000 individuals. Most of the affected individuals lack respiratory chain defects and there is no proven prophylactic treatment.

We identified two families (Figure 1A) and one singleton case (Appendix e-1) harbouring the m.13051G>A pathogenic mtDNA mutation. This mutation was homoplasmic (Figure e-1) but no respiratory chain defect was apparent in skele...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1212/WNL.0000000000002688

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
Expand authors...
Angus Memorial Mitochondrial Fund More from this funder
Lily Foundation More from this funder
Williams Foundation More from this funder
Expand funders...
Publisher:
American Association of Neurology Publisher's website
Journal:
Neurology Journal website
Volume:
86
Issue:
20
Pages:
1921-1923
Publication date:
2016-04-22
Acceptance date:
2016-01-25
DOI:
Source identifiers:
599511
Pubs id:
pubs:599511
UUID:
uuid:6249ce00-7a78-40b2-b73d-e5d982f2bddf
Local pid:
pubs:599511
Deposit date:
2016-02-09

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP