| Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNA(Asn) gene. | |
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MedLine Citation:
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PMID: 21741368 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report an 11-year-old boy with exercise-related myopathy, and a novel mutation m.5669G>A in the mitochondrial tRNA Asparagine gene (mt-tRNA(Asn), MTTN). Muscle biopsy studies showed COX-negative, SDH-positive fibers at histochemistry and biochemical defects of oxidative metabolism. The m.5669G>A mutation was present only in patient's muscle resulting in the first muscle-specific MTTN mutation. Mt-tRNA(Asn) steady-state levels and in silico predictions supported the pathogenicity of this mutation. A mitochondrial myopathy should be considered in the differential diagnosis of exercise intolerance in children. |
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Authors:
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Claudio Bruno; Denise Cassandrini; Fabiana Fattori; Marina Pedemonte; Chiara Fiorillo; Giorgia Brigati; Giacomo Brisca; Carlo Minetti; Filippo M Santorelli |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-6-29 |
Journal Detail:
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Title: Biochemical and biophysical research communications Volume: - ISSN: 1090-2104 ISO Abbreviation: - Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-7-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372516 Medline TA: Biochem Biophys Res Commun Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Inc. |
Affiliation:
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Unit of Muscular and Neurodegenerative Disease, IRCCS G. Gaslini Institute, Genova, Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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