title: An autosomal-recessive congenital myasthenic syndrome with tubular aggregates in a Libyan family.
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.
authors.affiliation: Department of Neurology, University Hospital, Bonn, Germany.
authors.forename: J P
authors.initials: JP
authors.lastname: Sieb
authors.forename: K
authors.initials: K
authors.lastname: Tolksdorf
authors.forename: R
authors.initials: R
authors.lastname: Dengler
authors.forename: F
authors.initials: F
authors.lastname: Jerusalem
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008002:Libya; D008297:Male; D008854:Microscopy, Electron; D018485:Muscle Fibers, Skeletal / Q000648:ultrastructure; D009157:Myasthenia Gravis / Q000473:pathology* / Q000503:physiopathology; D013577:Syndrome