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Journal article

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

Abstract:

Dok-7 is a cytoplasmic activator of muscle-specific receptor-tyrosine kinase (MuSK). Both Dok-7 and MuSK are required for neuromuscular synaptogenesis. Mutations in DOK7 underlie a congenital myasthenic syndrome (CMS) associated with small and simplified neuromuscular synapses likely due to impaired Dok-7/MuSK signaling. The overwhelming majority of patients with DOK7 CMS have at least one allele with a frameshift mutation that causes a truncation in the COOH-terminal region of Dok-7 and affe...

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Publication status:
Published

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Publisher copy:
10.1074/jbc.m708607200

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Journal:
The Journal of biological chemistry
Volume:
283
Issue:
9
Pages:
5518-5524
Publication date:
2008-02-05
DOI:
EISSN:
1083-351X
ISSN:
0021-9258
URN:
uuid:783d8336-dba1-4d4b-b56e-9071f449fdea
Source identifiers:
243234
Local pid:
pubs:243234

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