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Article

<i>DOK7</i> gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction

18 Sept 2014

Abstract excerpt

The neuromuscular junction (NMJ) is the synapse between a motor neuron and skeletal muscle. Defects in NMJ transmission cause muscle weakness, termed myasthenia. The muscle protein Dok-7 is essential for activation of the receptor kinase MuSK, which governs NMJ formation, and DOK7 mutations underlie familial limb-girdle myasthenia (DOK7 myasthenia), a neuromuscular disease characterized by small NMJs. Here, we...

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Identifiers

PMID: 25237101
DOI: 10.1126/science.1250744

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<i>DOK7</i> gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junctionPMID 25237101Read ↗

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The muscle protein Dok-7 is essential for neuromuscular synaptogenesis.Semantic proximity Read ↗

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

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