Summary
Type I fibers in m. gastrocnemius can be divided into a large group (67.5%) of medium sized fibers, a small group (7%) of reduced size and 22.8% fibers of enlarged size. Al-type I fibers contain rods but in variable proportion. Type II fibers are rare, they are all enlarged and contain but scanty rod material.
The m. fibularis brevis biopsy specimen contains fibers of uniform size (91.4%), a small amount (5.7%) of enlarged fibers and 2.8% of small size, all of type I, most of them containing rods in small amounts. Not included were extremely small fibers (smaller than 640 μ2), some of type I, others of type II, with or without rod material, in a proportion of approximately 10–15% of the total, with a scattered or small group distribution among type I fibers, and but slightly increased reaction for oxidative enzymes with a normal appearance of the intermyofibrillary network.
Nemaline myopathy is considered to be a developmental abnormality due to an inborn-error of myofibrillary synthesis, error leading to nemaline rod formation probably already before birth. Fiber type distribution can be explained by a lack of developmental differentiation in type I and type II fibers. An alternative hypothesis is that type II fibers are more sensitive to nemaline involvement, leading to an early conversion of involved type II fibers to type I fibers, probably at foetal age, and to the survival of rare isolated hypertrophic less involved type II fibers. Other factors than genetic penetrance must contribute to the wide variability of degree of involvement. Emphasized were the discrepancy in involvement in two muscles of the same patient, grouped according to the amount of rod material and the involvement of both nuclear bag and nuclear chain intrafusal fibers.
Zusammenfassung
Typ I-Fasern im M. gastrocnemius gliedern sich in eine große Gruppe von mittelgroßen Fasern (67,5%), eine kleine Gruppe kleiner Fasern (7%) und 22,8% vergrößerten Faserquerschnitten. Alle Fasern vom Typ I enthalten Stäbchen in wechselndem Ausmaß. Fasern vom Typ II sind selten, ausnahmslos vergrößert und enthalten nur selten “rod”-Material.
Biopsiematerial vom M. fibularis brevis enthält Fasern einheitlichen Kalibers (91,4%) und geringe Zahl von vergrößerten (5,7%) und kleinen Fasern (2,8%) vom Typ I, die meist kleine Mengen von Stäbchen enthalten. Nicht eingeschlossen sind extrem kleine Fasern (unter 640 μ2) vom Typ I oder II mit oder ohne “Rod”-Material, die etwa 10–15% der Gesamtzahl ausmachen. Sie sind disseminiert oder in kleinen Gruppen unter den Fasern vom Typ I verteilt und zeigen nur leicht erhöhte Aktivität oxydativer Enzyme mit normalem Verhalten des intermyofibrillären Netzwerks.
Die Nemalin-Myopathie wird als eine Entwicklungsstörung infolge angeborener Störung der Myofibrillensynthese aufgefaßt, der zur Nemalin-Stäbchenbildung vielleicht schon vor der Geburt führt. Die Verteilung der verschiedenen Fasertypen kann durch fehlende Entwicklungsdifferenzierung der Fasern vom Typ I und II erklärt werden. Eine Alternativhypothese wäre, daß die Fasern vom Typ II gegenüber der Nemalinaffektion empfindlicher wären und zu einer frühen Umbildung von betroffenen Fasern vom Typ II in solche vom Typ I vermutlich bereits im Fetalalter, führen. Nur einzelne hypertrophische, weniger betroffene Fasern vom Typ II dürften überleben.
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This work was supported by a grant of the Muscular Dystrophy Associations of America (1967/1968) and by the Engels-Born Foundation for Histochemistry.
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Martin, L., Reniers, J. & Joris, C. Nemaline myopathy. I. Histochemical study. Acta Neuropathol 11, 282–293 (1968). https://doi.org/10.1007/BF00686725
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DOI: https://doi.org/10.1007/BF00686725