Genuine myotubular myopathy
Identifieur interne : 000B70 ( Main/Exploration ); précédent : 000B69; suivant : 000B71Genuine myotubular myopathy
Auteurs : Murray C. Edström [Suède] ; Romuald Wr Blewski [Suède] ; Romuald Mair [Suède]Source :
- 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
Affiliations:
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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.</div></front></TEI><affiliations><list><country><li>Suède</li></country><region><li>Svealand</li></region><settlement><li>Stockholm</li></settlement></list><tree><country name="Suède"><noRegion><name sortKey="Edstrom, Murray C" sort="Edstrom, Murray C" uniqKey="Edstrom M" first="Murray C." last="Edström">Murray C. Edström</name></noRegion><name sortKey="Mair, Romuald" sort="Mair, Romuald" uniqKey="Mair R" first="Romuald" last="Mair">Romuald Mair</name><name sortKey="Mair, Romuald" sort="Mair, Romuald" uniqKey="Mair R" first="Romuald" last="Mair">Romuald Mair</name><name sortKey="Wr Blewski, Romuald" sort="Wr Blewski, Romuald" uniqKey="Wr Blewski R" first="Romuald" last="Wr Blewski">Romuald Wr Blewski</name><name sortKey="Wr Blewski, Romuald" sort="Wr Blewski, Romuald" uniqKey="Wr Blewski R" first="Romuald" last="Wr Blewski">Romuald Wr Blewski</name><name sortKey="Wr Blewski, Romuald" sort="Wr Blewski, Romuald" uniqKey="Wr Blewski R" first="Romuald" last="Wr Blewski">Romuald Wr Blewski</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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