Editors' ChoiceGENETICS

Muscle Building

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Science's STKE  03 Oct 2006:
Vol. 2006, Issue 355, pp. tw344
DOI: 10.1126/stke.3552006tw344

When neurons innervate muscles, they secrete a protein, agrin, which causes neurotransmitter receptors to cluster on the muscle and form a synapse at the point of nerve contact. A muscle-specific kinase is necessary for synapse development, as is the recently described protein Dok-7. Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that lead to muscle weakness. Beeson et al. now find that a group of patients with CMS have mutations in Dok-7. These mutations result in the formation of small, abnormal synapses at the neuromuscular junction and help account for the symptoms of the disease.

D. Beeson, O. Higuchi, J. Palace, J. Cossins, H. Spearman, S. Maxwell, J. Newsom-Davis, G. Burke, P. Fawcett, M. Motomura, J. S. Müller, H. Lochmüller, C. Slater, A. Vincent, Y. Yamanashi, Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313, 1975-1978 (2006). [Abstract] [Full Text]

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