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The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Abstract:

Congenital myasthenic syndromes (CMS) are a group of inherited diseases that affect synaptic transmission at the neuromuscular junction and result in fatiguable muscle weakness. A subgroup of CMS patients have a recessively inherited limb-girdle pattern of weakness caused by mutations in DOK7. DOK7 encodes DOK7, an adaptor protein that is expressed in the skeletal muscle and heart and that is essential for the development and maintenance of the neuromuscular junction. We have screened the DOK...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/dds198

Authors


Cossins, J More by this author
Maxwell, S More by this author
Oldridge, M More by this author
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Journal:
Human molecular genetics
Volume:
21
Issue:
17
Pages:
3765-3775
Publication date:
2012-09-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:e025f40f-9ef3-4879-8b5e-e6289a6231b1
Source identifiers:
334823
Local pid:
pubs:334823

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