Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency

Neurology
J P SiebF Ries

Abstract

We studied two families with five affected members suffering from ptosis and slowly progressive limb-girdle muscle weakness. All patients had abnormal decremental response on low-frequency nerve stimulation, but there were no repetitive responses to single stimuli. The patients improved on anti-acetylcholinesterase drugs. Intercostal muscle was obtained for special studies from one patient of each family. In vitro microelectrode studies were done in Patient 1. Miniature end-plate potentials were of low amplitude, and the quantal content of the evoked end-plate potentials was normal. Light microscopy revealed a marked type 1 fiber predominance. Acetylcholinesterase reactivity was dispersed over increased length of individual fibers in Patient 2. On morphometry of the end-plate ultrastructure, the number of secondary synaptic clefts per neuromuscular junction and the expansion of the postsynaptic area were markedly reduced. In Patient 1, but not in Patient 2, the envelopment of the nerve terminal by Schwann cell was increased. Acetylcholine-receptor (AChR) density was reduced as judged by the reduced immunoreactivity to antibodies against different receptor subunits. Immunohistochemical analysis of proteins known to be involved i...Continue Reading

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Citations

Oct 31, 2000·Microscopy Research and Technique·B L Patton
Nov 2, 1999·Neuromuscular Disorders : NMD·B L PattonJ R Sanes
Jan 4, 2001·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·G G Celesia
Jul 21, 1998·Annals of the New York Academy of Sciences·H J Kaminski
Jan 6, 2000·Current Opinion in Ophthalmology·P J SakolB M Massaro

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