INT312603

Context Info Confidence 0.26 First Reported 2010 Last Reported 2010 Negated 0 Speculated 1 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0 Pain Relevance 0

signal transduction (Musk) plasma membrane (Musk) kinase activity (Musk)

Musk (Mus musculus)

Pain Link Frequency Relevance Heat anesthesia 1 5.00 Action potential 1 5.00 imagery 1 5.00

Disease Link Frequency Relevance Heat Congenital Myasthenic Syndromes 22 50.00 Myasthenia Gravis 3 5.00 Syndrome 3 5.00 Respiratory Failure 2 5.00 Congenital Anomalies 2 5.00 Muscle Weakness 2 5.00 Frailty 1 5.00 Ocular Toxicity (including Many Sub-types) 1 5.00 Cognitive Disorder 1 5.00 Disease 1 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

To investigate the effect of the identified MUSK mutations on expression and function of MuSK we engineered the identified MUSK mutants using site-directed mutagenesis of human and mouse full-length MuSK cDNA constructs and expressed them in human heterologous cells and mouse C2C12 and MuSK?

Spec (investigate) Regulation (effect) of Spec (investigate) Gene_expression (expression) of MuSK

1) Confidence 0.26 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0 Pain Relevance 0

General Comments

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