Summary
Two patients, a brother and sister, both suffering from congenital generalized muscle weakness with a progressive course are reported. Muscle biopsy revealed areas with loss of cross striations in the muscle fibers, electronmicroscopically presenting complete disorganization of the myofibrils with streaming of the Z discs and absence of mitochondria. Vesicular nuclei with prominent nucleoli were present in these areas. There was a type I fiber prodominance in both cases. The mean diameter of the type I muscle fibers in one of the cases was too small. Motor endplate alterations in this patient gave no evidence of denervation but were suggestive of a delayed development of motor nerves.
Zusammenfassung
Es werden zwei Patienten beschrieben, Bruder und Schwester, beide an einer kongenitalen, generalisierten, progressiven Muskelschwäche leidend. Die Muskelbiopsie zeigte Zonen mit Verlust der Querstreifung in den Muskelfasern, und bei elektronenmikroskopischer Untersuchung zeigte sich eine totale Unordnung der Myofibrillen mit Strömung der Z-Scheiben und Fehlen von Mitochondrien. In diesen Bezirken fanden sich blasige Kerne mit prominenten Nukleolen. In beiden Fällen zeigte sich ein starkes Überwiegen der Typ-I-Fasern. Der mittlere Durchmesser der Typ-I-Muskelfasern war in einem der Fälle zu gering. Veränderungen in der motorischen Endplatte in diesem Fall zeigten keine Denervierung, sondern deuteten auf eine verzögerte Entwicklung der motorischen Nerven.
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This study was supported by grants from the Prinses Beatrix Fonds, from the FRSM of Belgium and from the Free University of Brussels
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van Wijngaarden, G.K., Bethlem, J., Dingemans, K.P. et al. Familial focal loss of cross striations. J. Neurol. 216, 163–172 (1977). https://doi.org/10.1007/BF00313617
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DOI: https://doi.org/10.1007/BF00313617