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Familial focal loss of cross striations
Authors:G. K. van Wijngaarden  J. Bethlem  K. P. Dingemans  C. Coërs  N. Telerman-Toppet  J. M. Gérard
Affiliation:(1) Muscle Research Center, Neurological Clinic of the University of Amsterdam, Akademisch Ziekenhuis, Eerste Helmersstraat 104, Amsterdam-Oud west, The Netherlands;(2) Laboratory of Pathological Anatomy of the University of Amsterdam, The Netherlands;(3) Neurological Department of the Brugmann Hospital of the Free University of Brussels, Belgium
Abstract:
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.This study was supported by grants from the Prinses Beatrix Fonds, from the FRSM of Belgium and from the Free University of Brussels
Keywords:Cross striations loss of  Myopathy congenital
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