| Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. | |
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MedLine Citation:
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PMID: 18504126 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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MtDNA instability is associated with a wide spectrum of clinical presentations, from dominant or recessive progressive external ophthalmoplegia (PEO) to juvenile-onset spino-cerebellar ataxia and epilepsy (SCAE) or infantile Alpers-Huttenlocher syndrome. We present here the clinical and molecular features of a patient with a clinical presentation characterized initially by PEO with mtDNA multiple deletions lately evolving into a severe neurological syndrome, which included sensory and cerebellar ataxia, peripheral neuropathy, parkinsonism, and depression. This complex phenotype is the result of mutations in two distinct proteins, ANT1 and PolgammaA, which cause additive, deleterious effects on mtDNA maintenance and integrity. |
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Authors:
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Giuliana Galassi; Eleonora Lamantea; Federica Invernizzi; Federica Tavani; Isabella Pisano; Ileana Ferrero; Luigi Palmieri; Massimo Zeviani |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-05-27 |
Journal Detail:
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Title: Neuromuscular disorders : NMD Volume: 18 ISSN: 0960-8966 ISO Abbreviation: Neuromuscul. Disord. Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-06-24 Completed Date: 2008-09-24 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 9111470 Medline TA: Neuromuscul Disord Country: England |
Other Details:
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Languages: eng Pagination: 465-70 Citation Subset: IM |
Affiliation:
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Department of Neuroscience, University of Modena, Modena, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adenine Nucleotide Translocator 1
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genetics* Adenosine Triphosphate / metabolism Adult DNA Mutational Analysis DNA-Directed DNA Polymerase / classification, genetics* Female Humans Magnetic Resonance Imaging Methionine / genetics Mitochondrial Encephalomyopathies / etiology, genetics*, pathology Molecular Sequence Data Mutation / genetics* Time Factors Valine / genetics |
| Grant Support | |
ID/Acronym/Agency:
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GGP07019//Telethon |
| Chemical | |
Reg. No./Substance:
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0/Adenine Nucleotide Translocator 1; 56-65-5/Adenosine Triphosphate; 63-68-3/Methionine; 7004-03-7/Valine; EC 2.7.7.-/POLG protein, human; EC 2.7.7.7/DNA-Directed DNA Polymerase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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