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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

Abstract:

Mutations in GFPT1 underlie a congenital myasthenic syndrome (CMS) characterized by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of proteins and lipids. It is expressed ubiquitously and it is not readily apparent why mutations in this gene should cause a syndrome with symptoms restricted to muscle and, in particular, to the neu...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddt145

Authors


Zoltowska, K More by this author
Webster, R More by this author
Finlayson, S More by this author
Maxwell, S More by this author
Cossins, J More by this author
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Journal:
Human molecular genetics
Volume:
22
Issue:
14
Pages:
2905-2913
Publication date:
2013-07-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:557e8eb4-0a62-4f80-b91e-73fc5568a9bf
Source identifiers:
395029
Local pid:
pubs:395029

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