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Journal article

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

Abstract:

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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Publication status:
Published

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Publisher copy:
10.1093/brain/awl200

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Journal:
Brain : a journal of neurology More from this journal
Volume:
129
Issue:
Pt 8
Pages:
2061-2076
Publication date:
2006-08-01
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
Language:
English
Keywords:
Pubs id:
pubs:324357
UUID:
uuid:8d95d038-0f9f-43cb-a04e-9bfef6f76c1c
Local pid:
pubs:324357
Source identifiers:
324357
Deposit date:
2012-12-19

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