| Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C. | |
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MedLine Citation:
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PMID: 20546952 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The most common mitochondrial DNA (mtDNA) mutations giving rise to Leigh syndrome reside in the MTATP6 gene. We report a rare mutation, m. 9185 T>C that gives rise to a progressive, but episodic pattern of neurological impairment with partial recovery. Disease progression corresponded to febrile viral illness and nuclear magnetic resonance imaging (MRI) changes. The patient displayed nearly 100% homoplasmy, while his asymptomatic mother was 30%. Phenotypically, exacerbations of muscle weakness with endurance intolerance, dysarthric speech, ataxia, and eyelid ptosis accompanied febrile viral illness. This case demonstrates an episodic pattern of febrile illness-induced disease exacerbation with corresponding MRI changes. |
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Authors:
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Russell P Saneto; Keshav K Singh |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2010-05-27 |
Journal Detail:
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Title: Mitochondrion Volume: 10 ISSN: 1872-8278 ISO Abbreviation: Mitochondrion Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-09 Completed Date: 2010-11-23 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 100968751 Medline TA: Mitochondrion Country: Netherlands |
Other Details:
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Languages: eng Pagination: 567-72 Citation Subset: IM |
Copyright Information:
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(c) 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved. |
Affiliation:
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Division of Pediatric Neurology, Seattle Children's Hospital and University of Washington, Seattle, WA 98105, USA. russ.saneto@seattlechildrens.org |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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radiography Child, Preschool Disease Progression Fever / complications* Humans Leigh Disease / genetics*, pathology* Magnetic Resonance Imaging Male Mitochondrial Proton-Translocating ATPases / genetics* Point Mutation* Virus Diseases / complications* |
| Grant Support | |
ID/Acronym/Agency:
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R01 CA121904/CA/NCI NIH HHS; R01 CA121904-11/CA/NCI NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 3.6.3.-/Mitochondrial Proton-Translocating ATPases; EC 3.6.3.14/MT-ATP6 protein, human |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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