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Journal article

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Abstract:

Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of CMS is characterised by proximal muscle weakness and fatigue while ocular and facial involvement is only minimal. DOK7 mutations have been identified as causing the disorder in about half of the cases. More recently, using classical positional cloning, we have identified mutations in a previously unrecognised CMS gen...

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Publication status:
Published

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Publisher copy:
10.1007/s00415-011-6262-z

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Journal:
Journal of neurology
Volume:
259
Issue:
5
Pages:
838-850
Publication date:
2011-10-05
DOI:
EISSN:
1432-1459
ISSN:
0340-5354
URN:
uuid:48ea5a13-7ddc-47a6-aff1-77d9f342afe5
Source identifiers:
241140
Local pid:
pubs:241140

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