Oct 7, 1977

Familial focal loss of cross striations

Journal of Neurology
G K van WijngaardenJ M Gérard


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 predominance 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.

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Mentioned in this Paper

Nerve Endings
Generalized Muscle Weakness
Muscle Fibers
Staining and Labeling
Muscle Fibers, Slow-Twitch
Superficial Biopsy of Muscle (Procedure)

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