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Myotubular Myopathy: Arrest of Morphogenesis of Myofibres Associated with Persistence of Fetal Vimentin and Desmin Four cases compared with fetal and neonatal muscle

Published online by Cambridge University Press:  18 September 2015

Harvey B. Sarnat
Harvey B. Sarnat*
Affiliation:
Departments of Pathology, Paediatrics, and Clinical Neurosciences, University of Calgary Faculty of Medicine, Calgary
*
Alberta Children's Hospital, 1820 Richmond Road S.W., Calgary, Alberta, Canada T2T 5C7
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Abstract:

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Vastus lateralis muscle biopsies of four unrelated male neonates showing myotubular (i.e. centronuclear) myopathy (MM) were compared with muscle from four human fetuses in the myotubular stage of development, a 31 week preterm infant and four term neonates. The perimysium, blood vessels, spindles, myelinated intramuscular nerves, and motor end-plates in MM are as well developed as in term neonatal muscle. The cytoarchitecture of myofibres in MM is more mature than that of fetal myotubes in the spacing of central nuclei, Z-band registry, development of the sarcotubular system, and in the condensation of nuclear chromatin and nucleoli. Triads in MM may retain an immature oblique or longitudinal orientation. Myofibrillar ATPase shows normal differentiation of fibre types, consistent with nonnal innervation. Spinal motor neurons are nonnal in number and in RNA fluorescence. Immunoreactivity for vimentin and desmin in myofibres of MM is uniformly strong, as in fetal myotubes and unlike mature neonatal muscle. Maternal muscle biopsies of two cases also showed scattered small centronuclear myofibres reactive for vimentin and desmin. The arrest in morphogenesis of fibre architecture in MM is not a general arrest in muscle development. Persistence of fetal cytoskeletal proteins that preserve the immature central positions of nuclei and mitochondria may be important in pathogenesis. Vimentin/desmin studies of the infant and maternal muscle biopsies are useful in establishing the diagnosis.

Résumé:

RÉSUMÉ:

On a comparé des biopsies musculaires du vaste externe prélevées chez quatre nouveau-nés mâles sans lien de parenté, montrant une myopathie myotubulaire (centro-nucléaire MM), à des muscles provenant de quatre foetus humains durant l'étape myotubulaire de développement, d'un enfant prématuré âgé de 31 semaines, et de quatre nouveau-nés à terme. Le périmysium, les vaisseaux sanguins, les fuseaux musculaires, les nerfs myélinisés intramusculaires, et les jonctions neuro-musculaires sont aussi bien développés dans la MM que dans le muscle néo-natal à terme. La cyto-architecture des myofibres dans la MM a un niveau de maturité supérieur à celui des myotubes foetaux en ce qui a trait aux intervalles entre les noyaux centraux, à l'alignement des striations transversales, au développement du système sarcotubulaire, et à la condensation de la chromatine nucléaire et du nucléole. Les triades dans la MM conservent souvent l'orientation oblique ou longitudinale de l'état immature. La différenciation histochimique des myofibres selon l'ATPase myofibrillaire reste mature dans la MM, suggèrant une innervation normale. Les neurones moteurs spinaux sont normaux en nombre et à l'égard de la fluorescence pour l'ARN. L'immunoréactivité pour la vimentine et pour la desmine dans les myofibres de MM est uniformément forte, semblable aux myotubes foetaux et dissemblable au muscle mature néo-natal. Les biopsies musculaires des mères de deux cas montrèrent également des petites myofibres éparses à noyaux centraux, réactives pour la vimentine et pour la desmine. La MM représente un arrêt de la morphogenèse de l'architecture de la myofibre mais non arrêt général du développement musculaire. La pathogenèse est vraisemblablement une presévérance des protéines cytosquelettiques du foetus qui maintiennent la localisation centrale immature des noyaux et des mitochondries. Les études de la vimentine et de la desmine dans les biopsies musculaires de la mère et de l'enfant sont utiles pour établir le diagnostic.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 17 , Issue 2 , May 1990 , pp. 109 - 123
Copyright
Copyright © Canadian Neurological Sciences Federation 1990

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