Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.

Journal article

The properties of neuromuscular junctions (NMJs) were studied in motor-point biopsy samples from eight patients with congenital myasthenic syndromes affecting primarily proximal limb muscles ['limb-girdle myasthenia' (LGM)]. All had moderate to severe weakness of the proximal muscles, without short-term clinical fatigability but with marked variation in strength over periods of weeks or months, with little or no facial weakness or ptosis and no ophthalmoplegia. Most had a characteristic gait ...

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Authors: Slater, C; Fawcett, P; Walls, T; Lyons, P; Bailey, S

• Publication status: Published
• Journal: Brain : a journal of neurology
• Volume: 129
• Issue: Pt 8
• Pages: 2061-2076
• Publication date: 2006-08-01
• DOI: 10.1093/brain/awl200
• EISSN: 1460-2156
• ISSN: 0006-8950
• Language: English
• Keywords: Adolescent; Neuromuscular Junction; Myasthenia Gravis; Synaptic Transmission; Humans; Receptors, Cholinergic; Child; Neural Conduction; Muscle, Skeletal; Electromyography; DNA Mutational Analysis; Motor Neurons; Cholinesterases; Male; Microscopy, Electron; Female; Adult; Extremities; Electric Stimulation