| Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene. | |
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MedLine Citation:
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PMID: 11680798 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Some patients presenting with isolated lifelong exercise intolerance and ragged-red fibres, harbour skeletal-muscle restricted mutations in their mitochondrial DNA. AIM: To identify the molecular defect in a patient presenting with lifelong exercise intolerance, ragged-red fibres and deficiencies of complexes III and IV in skeletal muscle. METHODS: The muscle biopsy was studied for activities of the respiratory chain, histochemical stains, and sequencing the tRNA genes of mitochondrial DNA. RESULTS: The patient had a heteroplasmic mutation in the tRNA(Leu (CUN)) gene of mitochondrial DNA (G12334A). Clinical and morphological data as well as restriction fragment length polymorphism (RFLP) and single-fibre polymerase chain reaction (PCR) analyses strongly indicate that this molecular defect is the primary cause of the myopathy. CONCLUSION: Mutations in any mitochondrial gene should be considered in the differential diagnosis of patients with lifelong exercise intolerance, even when the neurological examination is normal. |
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Authors:
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C Vives-Bauza; J Gamez; M Roig; P Briones; C Cervera; A Solano; J Montoya; A L Andreu |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Annals of medicine Volume: 33 ISSN: 0785-3890 ISO Abbreviation: Ann. Med. Publication Date: 2001 Oct |
Date Detail:
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Created Date: 2001-10-26 Completed Date: 2002-01-29 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8906388 Medline TA: Ann Med Country: England |
Other Details:
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Languages: eng Pagination: 493-6 Citation Subset: IM |
Affiliation:
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Research Centre for Biochemistry and Molecular Biology, Universitary Hospital Vall d'Hebron, Barcelona, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Base Sequence Biopsy, Needle Diagnosis, Differential Exercise Tolerance / genetics* Fatigue Syndrome, Chronic / diagnosis*, genetics* Female Follow-Up Studies Humans Immunohistochemistry Mitochondrial Myopathies / diagnosis*, genetics* Molecular Sequence Data Mutation Polymerase Chain Reaction RNA, Transfer / genetics* |
| Chemical | |
Reg. No./Substance:
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9014-25-9/RNA, Transfer |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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