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Article

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction

6 Apr 2010

Abstract excerpt

We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase (MUSK). The identified MUSK mutations M605I and A727V are both located in the kinase domain of MuSK. Intracellular microelectrode recordings and microscopy studies of the neuromuscular junction conducted in an anconeus muscle biopsy revealed decreased...

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PMID: 20371544
DOI: 10.1093/hmg/ddq110

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