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OPA1 in multiple mitochondrial DNA deletion disorders

OPA1 in multiple mitochondrial DNA deletion disorders
OPA1 in multiple mitochondrial DNA deletion disorders
Disorders of mitochondrial DNA (mtDNA) maintenance
are a major cause of sporadic and inherited
neurologic disease,1 but the underlying nuclear gene
defects have yet to be identified in many patients.
Following the recent description of multiple mtDNA
deletions in seven families with mutations in
OPA1,2-4 we determined the frequency of OPA1 mutations
in adult patients with multiple mtDNA deletions
who did not have mutations in POLG1,
POLG2, SLC25A4, and PEO1.
0028-3878
1829-1831
Stewart, J.D.
e1ec9784-39cc-48ed-9f4f-2a05d25f2106
Hudson, G.
27591c21-a00b-4dff-bea1-744c66e07e52
Yu-Wai-Man, P.
ed57f03a-3af0-415d-8c7c-f6685e67c00f
Blakeley, E.L.
efdc244f-c6f3-4b4e-9238-95ce1deaf0ae
He, L.
28f5c0e1-e0d6-4383-a10f-972815e0a7e4
Horvath, R.
a85d58cf-79de-49a6-bb32-235144e532b5
Maddison, P.
35f6856e-eb13-4130-af06-7d59c85d0740
Wright, A.
b61333ca-30c4-4786-b64d-7510229c3755
Griffiths, P.G.
6e399e70-baa0-42ad-b507-26e86e24321a
Turnbull, D.M.
e07d3a95-ba74-4e6e-a3ea-31ad3d99e2a2
Taylor, R.W.
2ef6dfc8-0041-4576-9614-9cb55e92f784
Chinnery, P.F.
875ae619-e804-4fee-8074-2498520607d4
Stewart, J.D.
e1ec9784-39cc-48ed-9f4f-2a05d25f2106
Hudson, G.
27591c21-a00b-4dff-bea1-744c66e07e52
Yu-Wai-Man, P.
ed57f03a-3af0-415d-8c7c-f6685e67c00f
Blakeley, E.L.
efdc244f-c6f3-4b4e-9238-95ce1deaf0ae
He, L.
28f5c0e1-e0d6-4383-a10f-972815e0a7e4
Horvath, R.
a85d58cf-79de-49a6-bb32-235144e532b5
Maddison, P.
35f6856e-eb13-4130-af06-7d59c85d0740
Wright, A.
b61333ca-30c4-4786-b64d-7510229c3755
Griffiths, P.G.
6e399e70-baa0-42ad-b507-26e86e24321a
Turnbull, D.M.
e07d3a95-ba74-4e6e-a3ea-31ad3d99e2a2
Taylor, R.W.
2ef6dfc8-0041-4576-9614-9cb55e92f784
Chinnery, P.F.
875ae619-e804-4fee-8074-2498520607d4

Stewart, J.D., Hudson, G., Yu-Wai-Man, P., Blakeley, E.L., He, L., Horvath, R., Maddison, P., Wright, A., Griffiths, P.G., Turnbull, D.M., Taylor, R.W. and Chinnery, P.F. (2008) OPA1 in multiple mitochondrial DNA deletion disorders. Neurology, 71 (22), 1829-1831. (doi:10.1212/01.wnl.0000335931.54095.0a). (PMID:19029523)

Record type: Article

Abstract

Disorders of mitochondrial DNA (mtDNA) maintenance
are a major cause of sporadic and inherited
neurologic disease,1 but the underlying nuclear gene
defects have yet to be identified in many patients.
Following the recent description of multiple mtDNA
deletions in seven families with mutations in
OPA1,2-4 we determined the frequency of OPA1 mutations
in adult patients with multiple mtDNA deletions
who did not have mutations in POLG1,
POLG2, SLC25A4, and PEO1.

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Published date: 2008
Organisations: Centre for Biological Sciences

Identifiers

Local EPrints ID: 355890
URI: http://eprints.soton.ac.uk/id/eprint/355890
ISSN: 0028-3878
PURE UUID: 05841c68-0705-4380-b646-deb63b7246f3
ORCID for J.D. Stewart: ORCID iD orcid.org/0000-0002-2608-1967

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Date deposited: 04 Sep 2013 17:31
Last modified: 14 Mar 2024 14:39

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Contributors

Author: J.D. Stewart ORCID iD
Author: G. Hudson
Author: P. Yu-Wai-Man
Author: E.L. Blakeley
Author: L. He
Author: R. Horvath
Author: P. Maddison
Author: A. Wright
Author: P.G. Griffiths
Author: D.M. Turnbull
Author: R.W. Taylor
Author: P.F. Chinnery

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