par van Wijngaarden, George G.K.;Bethlem, Jaap;Dingemans, Koert K.P.;Coërs, Christian
;Telerman Toppet, Nicole
;Gerard, Jean-Marie ![](/vufind/images/ULB/publications_list.png)
Référence Journal of neurology, 216, 3, page (163-172)
Publication Publié, 1977-09
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![](/vufind/images/ULB/publications_list.png)
![](/vufind/images/ULB/publications_list.png)
Référence Journal of neurology, 216, 3, page (163-172)
Publication Publié, 1977-09
Article révisé par les pairs
Résumé : | 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. © 1977 Springer-Verlag. |