The University of Southampton
×
Filter your search:
University of Southampton Institutional Repository

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease
Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in patients having axonal CMT that may be associated with tremor or ataxia.
0003-9942
133-136
Harrower, Timothy
622aef99-ac5d-4ec5-8c02-03a78cbaebcb
Stewart, Joanna D.
e1ec9784-39cc-48ed-9f4f-2a05d25f2106
Hudson, Gavin
cbad491d-cc7f-4bea-b214-b6752151fc13
Houlden, Henry
b4cd8392-164c-4d35-8933-690a804ebb18
Warner, Graham
a9a6dca8-a03b-4856-be25-d64046a8ea26
O'Donovan, Dominic G.
909ea188-26f0-4cdb-8e50-4a2d7c2f1d66
Findlay, Leslie J.
d6bba8f9-1b23-48b4-b8c6-b7d0a0295e73
Taylor, Robert W.
094ef050-e4ce-4394-a68f-35b58255104d
De Silva, Rajith
8d0b5a04-6b4d-4369-8005-fc32839219d4
Chinnery, Patrick F.
a39c5ef7-0cac-401c-a3fb-2e0e2626e6dc
Harrower, Timothy
622aef99-ac5d-4ec5-8c02-03a78cbaebcb
Stewart, Joanna D.
e1ec9784-39cc-48ed-9f4f-2a05d25f2106
Hudson, Gavin
cbad491d-cc7f-4bea-b214-b6752151fc13
Houlden, Henry
b4cd8392-164c-4d35-8933-690a804ebb18
Warner, Graham
a9a6dca8-a03b-4856-be25-d64046a8ea26
O'Donovan, Dominic G.
909ea188-26f0-4cdb-8e50-4a2d7c2f1d66
Findlay, Leslie J.
d6bba8f9-1b23-48b4-b8c6-b7d0a0295e73
Taylor, Robert W.
094ef050-e4ce-4394-a68f-35b58255104d
De Silva, Rajith
8d0b5a04-6b4d-4369-8005-fc32839219d4
Chinnery, Patrick F.
a39c5ef7-0cac-401c-a3fb-2e0e2626e6dc

Harrower, Timothy, Stewart, Joanna D., Hudson, Gavin, Houlden, Henry, Warner, Graham, O'Donovan, Dominic G., Findlay, Leslie J., Taylor, Robert W., De Silva, Rajith and Chinnery, Patrick F. (2008) POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Archives of Neurology, 65 (1), 133-136. (doi:10.1001/archneurol.2007.4). (PMID:18195151)

Record type: Article

Abstract

Even in the absence of classic features of mitochondrial disease, POLG1 should be considered in patients having axonal CMT that may be associated with tremor or ataxia.

Text
Harrower et al, 2008.pdf - Other
Download (172kB)

More information

Published date: January 2008
Related URLs:
Organisations: Centre for Biological Sciences
Learn more about Biological Sciences research

Identifiers

Local EPrints ID: 355907
URI: http://eprints.soton.ac.uk/id/eprint/355907
DOI: doi:10.1001/archneurol.2007.4
ISSN: 0003-9942
PURE UUID: ffa8acc6-f974-44dd-805e-b32e3961681b
ORCID for Joanna D. Stewart: ORCID iD orcid.org/0000-0002-2608-1967

Catalogue record

Date deposited: 04 Sep 2013 17:28
Last modified: 14 Mar 2024 14:40

Export record

Altmetrics

Contributors

Author: Timothy Harrower
Author: Joanna D. Stewart ORCID iD
Author: Gavin Hudson
Author: Henry Houlden
Author: Graham Warner
Author: Dominic G. O'Donovan
Author: Leslie J. Findlay
Author: Robert W. Taylor
Author: Rajith De Silva
Author: Patrick F. Chinnery

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Library staff additional information
Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×