Mutation Aprataxin Coenzyme Q Deficiency and Cerebellar Ataxia Associated with An
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2005;64;539-541 Neurology Hirano C. M. Quinzii, A. G. Kattah, A. Naini, H. O. Akman, V. K. Mootha, S. DiMauro and M. mutation aprataxin Coenzyme Q deficiency and cerebellar ataxia associated with an This information is current as of September 27, 2007 http://www.neurology.org/cgi/content/full/64/3/539 located on the World Wide Web at: The online version of this article, along with updated information and services, is All rights reserved. Print ISSN: 0028-3878. Online ISSN: 1526-632X. since 1951, it is now a weekly with 48 issues per year. Copyright © 2005 by AAN Enterprises, Inc. ® is the official journal of the American Academy of Neurology. Published continuously Neurology
منابع مشابه
Cerebellar Ataxia and CoQ10 Deficiency.
In 2001, we described six patients with cerebellar ataxia and severe deficiency of coenzyme Q10 (CoQ10, ubiquinone) in skeletal muscle [1]. Within one year, we described 13 additional patients [2]; therefore, we suspected this was not a very rare syndrome. Twelve years after our original report, cerebellar ataxia and atrophy has emerged as the most common clinical presentation of CoQ10 deficien...
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متن کاملDeficiency Syndrome
Coenzyme Q 10 (CoQ 10 ) deficiency is a clinically and genetically heterogeneous syndrome which has been associated with 5 major clinical phenotypes: (1) encephalomyopathy, (2) severe infantile multisystemic disease, (3) nephropathy, (4) cerebellar ataxia, and (5) isolated myopathy. Of these phenotypes, cerebellar ataxia and syndromic or isolated nephrotic syndrome are the most common. CoQ 10 d...
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Ataxia-oculomotor apraxia syndrome 1 is an early onset cerebellar ataxia that results from loss of function mutations in the APTX gene, encoding Aprataxin, which contains three conserved domains. The forkhead-associated domain of Aprataxin mediates protein-protein interactions with molecules that respond to DNA damage, but the cellular phenotype of the disease does not appear to be consistent w...
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تاریخ انتشار 2005