Case report
English
Sieb JP, Tolksdorf K, Dengler R, Jerusalem F.
Department of Neurology, University Hospital, Bonn, Germany.
Neuromuscul Disord. 1996 Mar;6(2):115-9.
Abstract
We studied a Libyan family in which five out of seven siblings have had slowly progressive limb-girdle weakness accentuated by exercise since childhood. Ptosis or ophthalmoplegia were not observed. Pronounced decremental electromyographic responses on 3 Hz stimulation indicated the presence of a defect of neuromuscular transmission. Repeated testing for acetylcholine receptor antibodies was negative. Muscle biopsy revealed tubular aggregates in 34% of the type 2 muscle fibers. Our observation illustrates the wide clinical spectrum of congenital myasthenic syndromes.
Keywords: Endplate; neuromuscular transmission; acetylcholine receptor; slow-channel syndrome; fatiguability; pyridostigmine
Link/DOI: http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T9T-3WB7S1B-3B&_user=10&_coverDate=03%2F31%2F1996&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=fffb2099f6ab624001bdf7ef31fc67bd