Genuine myotubular myopathy
Identifieur interne : 000448 ( Istex/Corpus ); précédent : 000447; suivant : 000449Genuine myotubular myopathy
Auteurs : Murray C. Edström ; Romuald Wr Blewski ; Romuald MairSource :
- Muscle & Nerve [ 0148-639X ] ; 1982-10.
Abstract
Two patients, a father and his 14‐year‐old son, were suffering from a facioperoneal syndrome, and muscle biopsy findings were consistent with a myotubular myopathy. The father exhibited central nuclei in most muscle fibers, but his son had typical changes exclusively in hypotrophic type I fibers. The cytochemical and ultrastructural analysis revealed a spectrum of pathological changes typical of myotubular myopathy. Energy‐dispersive electron probe x‐ray microanalysis was performed on 6‐to 12‐μm thick freeze‐dried cryosections visualized in the scanning or scanning transmission mode of electron microscopy. We found a high intracellular sodium and chlorine concentration and a low potassium concentration in comparison with control muscles. These changes pointed in the direction similar to results from human fetal muscle. The changes in the intracellular elemental composition may indicate a membrane pump dysfunction, which might be caused by a partial arrest in muscle fiber maturation.
Url:
DOI: 10.1002/mus.880050804
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Edström</name><affiliation><mods:affiliation>Department of Neurology, Karolinska Hospital, Stockholm Sweden</mods:affiliation></affiliation></author><author><name sortKey="Wr Blewski, Romuald" sort="Wr Blewski, Romuald" uniqKey="Wr Blewski R" first="Romuald" last="Wr Blewski">Romuald Wr Blewski</name><affiliation><mods:affiliation>Department of Neurology, Karolinska Hospital, Stockholm Sweden</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Ultrastructural Research, Wenner‐Gren Institute, University of Stockholm, Sweden</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Physiology II, Karolinska Institute, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Mair, Romuald" sort="Mair, Romuald" uniqKey="Mair R" first="Romuald" last="Mair">Romuald Mair</name><affiliation><mods:affiliation>Department of Neurology, Karolinska Hospital, Stockholm Sweden</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Ultrastructural Research, Wenner‐Gren Institute, University of Stockholm, Sweden</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:328C9C96B3430E0229EBD5FBBC888313657CC483</idno><date when="1982" year="1982">1982</date><idno type="doi">10.1002/mus.880050804</idno><idno type="url">https://api.istex.fr/document/328C9C96B3430E0229EBD5FBBC888313657CC483/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000448</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000448</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genuine myotubular myopathy</title><author><name sortKey="Edstrom, Murray C" sort="Edstrom, Murray C" uniqKey="Edstrom M" first="Murray C." last="Edström">Murray C. Edström</name><affiliation><mods:affiliation>Department of Neurology, Karolinska Hospital, Stockholm Sweden</mods:affiliation></affiliation></author><author><name sortKey="Wr Blewski, Romuald" sort="Wr Blewski, Romuald" uniqKey="Wr Blewski R" first="Romuald" last="Wr Blewski">Romuald Wr Blewski</name><affiliation><mods:affiliation>Department of Neurology, Karolinska Hospital, Stockholm Sweden</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Ultrastructural Research, Wenner‐Gren Institute, University of Stockholm, Sweden</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Physiology II, Karolinska Institute, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Mair, Romuald" sort="Mair, Romuald" uniqKey="Mair R" first="Romuald" last="Mair">Romuald Mair</name><affiliation><mods:affiliation>Department of Neurology, Karolinska Hospital, Stockholm Sweden</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Ultrastructural Research, Wenner‐Gren Institute, University of Stockholm, Sweden</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Muscle & Nerve</title><title level="j" type="sub">Official Journal of the American Association of Electrodiagnostic Medicine</title><title level="j" type="abbrev">Muscle Nerve</title><idno type="ISSN">0148-639X</idno><idno type="eISSN">1097-4598</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="1982-10">1982-10</date><biblScope unit="volume">5</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="604">604</biblScope><biblScope unit="page" to="613">613</biblScope></imprint><idno type="ISSN">0148-639X</idno></series><idno type="istex">328C9C96B3430E0229EBD5FBBC888313657CC483</idno><idno type="DOI">10.1002/mus.880050804</idno><idno type="ArticleID">MUS880050804</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-639X</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Two patients, a father and his 14‐year‐old son, were suffering from a facioperoneal syndrome, and muscle biopsy findings were consistent with a myotubular myopathy. The father exhibited central nuclei in most muscle fibers, but his son had typical changes exclusively in hypotrophic type I fibers. The cytochemical and ultrastructural analysis revealed a spectrum of pathological changes typical of myotubular myopathy. Energy‐dispersive electron probe x‐ray microanalysis was performed on 6‐to 12‐μm thick freeze‐dried cryosections visualized in the scanning or scanning transmission mode of electron microscopy. We found a high intracellular sodium and chlorine concentration and a low potassium concentration in comparison with control muscles. These changes pointed in the direction similar to results from human fetal muscle. The changes in the intracellular elemental composition may indicate a membrane pump dysfunction, which might be caused by a partial arrest in muscle fiber maturation.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Dr. Edström PhD</name><affiliations><json:string>Department of Neurology, Karolinska Hospital, Stockholm Sweden</json:string></affiliations></json:item><json:item><name>Romuald Wróblewski PhD</name><affiliations><json:string>Department of Neurology, Karolinska Hospital, Stockholm Sweden</json:string><json:string>Department of Ultrastructural Research, Wenner‐Gren Institute, University of Stockholm, Sweden</json:string><json:string>Department of Physiology II, Karolinska Institute, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Dr. Mair MD</name><affiliations><json:string>Department of Neurology, Karolinska Hospital, Stockholm Sweden</json:string><json:string>Department of Ultrastructural Research, Wenner‐Gren Institute, University of Stockholm, Sweden</json:string></affiliations></json:item></author><articleId><json:string>MUS880050804</json:string></articleId><language><json:string>eng</json:string></language><abstract>Two patients, a father and his 14‐year‐old son, were suffering from a facioperoneal syndrome, and muscle biopsy findings were consistent with a myotubular myopathy. 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P.</givenNames><familyName>Mair</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="SE" type="organization"><unparsedAffiliation>Department of Neurology, Karolinska Hospital, Stockholm Sweden</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="SE" type="organization"><unparsedAffiliation>Department of Ultrastructural Research, Wenner‐Gren Institute, University of Stockholm, Sweden</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="SE" type="organization"><unparsedAffiliation>Department of Physiology II, Karolinska Institute, Stockholm, Sweden</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Two patients, a father and his 14‐year‐old son, were suffering from a facioperoneal syndrome, and muscle biopsy findings were consistent with a myotubular myopathy. The father exhibited central nuclei in most muscle fibers, but his son had typical changes exclusively in hypotrophic type I fibers. The cytochemical and ultrastructural analysis revealed a spectrum of pathological changes typical of myotubular myopathy. Energy‐dispersive electron probe x‐ray microanalysis was performed on 6‐to 12‐μm thick freeze‐dried cryosections visualized in the scanning or scanning transmission mode of electron microscopy. We found a high intracellular sodium and chlorine concentration and a low potassium concentration in comparison with control muscles. These changes pointed in the direction similar to results from human fetal muscle. 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The father exhibited central nuclei in most muscle fibers, but his son had typical changes exclusively in hypotrophic type I fibers. The cytochemical and ultrastructural analysis revealed a spectrum of pathological changes typical of myotubular myopathy. Energy‐dispersive electron probe x‐ray microanalysis was performed on 6‐to 12‐μm thick freeze‐dried cryosections visualized in the scanning or scanning transmission mode of electron microscopy. We found a high intracellular sodium and chlorine concentration and a low potassium concentration in comparison with control muscles. These changes pointed in the direction similar to results from human fetal muscle. The changes in the intracellular elemental composition may indicate a membrane pump dysfunction, which might be caused by a partial arrest in muscle fiber maturation.</abstract><relatedItem type="host"><titleInfo><title>Muscle & Nerve</title><subTitle>Official Journal of the American Association of Electrodiagnostic Medicine</subTitle></titleInfo><titleInfo type="abbreviated"><title>Muscle Nerve</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Article</topic></subject><identifier type="ISSN">0148-639X</identifier><identifier type="eISSN">1097-4598</identifier><identifier type="DOI">10.1002/(ISSN)1097-4598</identifier><identifier type="PublisherID">MUS</identifier><part><date>1982</date><detail type="volume"><caption>vol.</caption><number>5</number></detail><detail type="issue"><caption>no.</caption><number>8</number></detail><extent unit="pages"><start>604</start><end>613</end><total>10</total></extent></part></relatedItem><identifier type="istex">328C9C96B3430E0229EBD5FBBC888313657CC483</identifier><identifier type="DOI">10.1002/mus.880050804</identifier><identifier type="ArticleID">MUS880050804</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1982 John Wiley & Sons, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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