Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene
We report a novel nonsense mitochondrial cytochrome b mutation (G15170A) in a 40‐year‐old woman with progressive exercise intolerance and lactic acidosis. Muscle biopsy showed several cytochrome c oxidase–positive ragged‐red fibers, and reduced activities of respiratory chain complexes I and III. Th...
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| Veröffentlicht in: | Muscle & nerve 2003-10, Vol.28 (4), p.508-511 |
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| container_title | Muscle & nerve |
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| creator | Bruno, Claudio Santorelli, Filippo M. Assereto, Stefania Tonoli, Emmanuel Tessa, Alessandra Traverso, Monica Scapolan, Sara Bado, Massimo Tedeschi, Silvana Minetti, Carlo |
| description | We report a novel nonsense mitochondrial cytochrome b mutation (G15170A) in a 40‐year‐old woman with progressive exercise intolerance and lactic acidosis. Muscle biopsy showed several cytochrome c oxidase–positive ragged‐red fibers, and reduced activities of respiratory chain complexes I and III. This mutation, resulting in the loss of 228 amino acids of the protein, was very abundant in the patient's muscle, but undetectable in lymphocytes and fibroblasts. Clinical and laboratory data indicate that this defect is the primary cause of the disease, thus adding a new mutation in the cytochrome b gene among the growing number of patients with exercise intolerance and lactic acidosis. Muscle Nerve 28: 508–511, 2003 |
| doi_str_mv | 10.1002/mus.10429 |
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Muscle biopsy showed several cytochrome c oxidase–positive ragged‐red fibers, and reduced activities of respiratory chain complexes I and III. This mutation, resulting in the loss of 228 amino acids of the protein, was very abundant in the patient's muscle, but undetectable in lymphocytes and fibroblasts. Clinical and laboratory data indicate that this defect is the primary cause of the disease, thus adding a new mutation in the cytochrome b gene among the growing number of patients with exercise intolerance and lactic acidosis. 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Neuromuscular diseases ; DNA, Mitochondrial - genetics ; DNA, Mitochondrial - metabolism ; Electron Transport Complex I ; Electron Transport Complex III - metabolism ; Electron Transport Complex IV - metabolism ; Exercise - physiology ; exercise intolerance ; Female ; Humans ; lactic acidosis ; Medical sciences ; mitochondrial DNA ; Muscle Cramp - genetics ; Muscle Fibers, Skeletal - enzymology ; Muscle Fibers, Skeletal - pathology ; Muscle, Skeletal - metabolism ; Muscle, Skeletal - pathology ; NADH, NADPH Oxidoreductases - metabolism ; Neurology</subject><ispartof>Muscle & nerve, 2003-10, Vol.28 (4), p.508-511</ispartof><rights>Copyright © 2003 Wiley Periodicals, Inc.</rights><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4209-30d6c6e4e8b5f7aca6fe298e037e32160ed382eb60f3efad1d11f0cfce67b8013</citedby><cites>FETCH-LOGICAL-c4209-30d6c6e4e8b5f7aca6fe298e037e32160ed382eb60f3efad1d11f0cfce67b8013</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmus.10429$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmus.10429$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15183477$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14506725$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bruno, Claudio</creatorcontrib><creatorcontrib>Santorelli, Filippo M.</creatorcontrib><creatorcontrib>Assereto, Stefania</creatorcontrib><creatorcontrib>Tonoli, Emmanuel</creatorcontrib><creatorcontrib>Tessa, Alessandra</creatorcontrib><creatorcontrib>Traverso, Monica</creatorcontrib><creatorcontrib>Scapolan, Sara</creatorcontrib><creatorcontrib>Bado, Massimo</creatorcontrib><creatorcontrib>Tedeschi, Silvana</creatorcontrib><creatorcontrib>Minetti, Carlo</creatorcontrib><title>Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene</title><title>Muscle & nerve</title><addtitle>Muscle Nerve</addtitle><description>We report a novel nonsense mitochondrial cytochrome b mutation (G15170A) in a 40‐year‐old woman with progressive exercise intolerance and lactic acidosis. Muscle biopsy showed several cytochrome c oxidase–positive ragged‐red fibers, and reduced activities of respiratory chain complexes I and III. This mutation, resulting in the loss of 228 amino acids of the protein, was very abundant in the patient's muscle, but undetectable in lymphocytes and fibroblasts. Clinical and laboratory data indicate that this defect is the primary cause of the disease, thus adding a new mutation in the cytochrome b gene among the growing number of patients with exercise intolerance and lactic acidosis. Muscle Nerve 28: 508–511, 2003</description><subject>Acidosis, Lactic - genetics</subject><subject>Adult</subject><subject>Base Sequence - genetics</subject><subject>Biological and medical sciences</subject><subject>Codon, Nonsense</subject><subject>cytochrome b gene</subject><subject>Cytochrome b Group - genetics</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA, Mitochondrial - genetics</subject><subject>DNA, Mitochondrial - metabolism</subject><subject>Electron Transport Complex I</subject><subject>Electron Transport Complex III - metabolism</subject><subject>Electron Transport Complex IV - metabolism</subject><subject>Exercise - physiology</subject><subject>exercise intolerance</subject><subject>Female</subject><subject>Humans</subject><subject>lactic acidosis</subject><subject>Medical sciences</subject><subject>mitochondrial DNA</subject><subject>Muscle Cramp - genetics</subject><subject>Muscle Fibers, Skeletal - enzymology</subject><subject>Muscle Fibers, Skeletal - pathology</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Muscle, Skeletal - pathology</subject><subject>NADH, NADPH Oxidoreductases - metabolism</subject><subject>Neurology</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkctu1DAYhS0EotPCghdA3oDaRVo7vmZZVe0UWi4SrVqxsRznT8eQxMXOMJ1H4K1xNANdISRLvvzfOcfSQegVJYeUkPKoX6Z84GX1BM0oqVTBRaWfohmhXBeSVbc7aDelb4QQqqV6jnYoF0SqUszQr88x3EVIyf8EDA8QnU-A_TCGDqIdHGCbUnDejtDglR8X2OIBVjhHug6KrByjd9NwCEOCvPJotKMPA96fU17eHmQ3PC7yux-DW4Shid522K2nWww94BrfwQAv0LPWdglebvc9dH12enVyXlx-mr87Ob4sHC9JVTDSSCeBg65Fq6yzsoWy0kCYAlZSSaBhuoRakpZBaxvaUNoS1zqQqtaEsj30duN7H8OPZf6_6X1y0HV2gLBMRglFhBTkvyBVSnPNRQYPNqCLIaUIrbmPvrdxbSgxU0Gmn_CpoMy-3pou6x6aR3LbSAbebAGbnO3aqQSfHjlBNeNKZe5ow618B-t_J5oP11_-RBcbhU8jPPxV2PjdSMWUMDcf5-a9qL5e3JzPzRX7DXJzuX8</recordid><startdate>200310</startdate><enddate>200310</enddate><creator>Bruno, Claudio</creator><creator>Santorelli, Filippo M.</creator><creator>Assereto, Stefania</creator><creator>Tonoli, Emmanuel</creator><creator>Tessa, Alessandra</creator><creator>Traverso, Monica</creator><creator>Scapolan, Sara</creator><creator>Bado, Massimo</creator><creator>Tedeschi, Silvana</creator><creator>Minetti, Carlo</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TS</scope><scope>7X8</scope></search><sort><creationdate>200310</creationdate><title>Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene</title><author>Bruno, Claudio ; Santorelli, Filippo M. ; Assereto, Stefania ; Tonoli, Emmanuel ; Tessa, Alessandra ; Traverso, Monica ; Scapolan, Sara ; Bado, Massimo ; Tedeschi, Silvana ; Minetti, Carlo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4209-30d6c6e4e8b5f7aca6fe298e037e32160ed382eb60f3efad1d11f0cfce67b8013</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Acidosis, Lactic - genetics</topic><topic>Adult</topic><topic>Base Sequence - genetics</topic><topic>Biological and medical sciences</topic><topic>Codon, Nonsense</topic><topic>cytochrome b gene</topic><topic>Cytochrome b Group - genetics</topic><topic>Diseases of striated muscles. 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Muscle biopsy showed several cytochrome c oxidase–positive ragged‐red fibers, and reduced activities of respiratory chain complexes I and III. This mutation, resulting in the loss of 228 amino acids of the protein, was very abundant in the patient's muscle, but undetectable in lymphocytes and fibroblasts. Clinical and laboratory data indicate that this defect is the primary cause of the disease, thus adding a new mutation in the cytochrome b gene among the growing number of patients with exercise intolerance and lactic acidosis. Muscle Nerve 28: 508–511, 2003</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>14506725</pmid><doi>10.1002/mus.10429</doi><tpages>4</tpages></addata></record> |
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| subjects | Acidosis, Lactic - genetics Adult Base Sequence - genetics Biological and medical sciences Codon, Nonsense cytochrome b gene Cytochrome b Group - genetics Diseases of striated muscles. Neuromuscular diseases DNA, Mitochondrial - genetics DNA, Mitochondrial - metabolism Electron Transport Complex I Electron Transport Complex III - metabolism Electron Transport Complex IV - metabolism Exercise - physiology exercise intolerance Female Humans lactic acidosis Medical sciences mitochondrial DNA Muscle Cramp - genetics Muscle Fibers, Skeletal - enzymology Muscle Fibers, Skeletal - pathology Muscle, Skeletal - metabolism Muscle, Skeletal - pathology NADH, NADPH Oxidoreductases - metabolism Neurology |
| title | Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene |
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