INT312600

Context Info Confidence 0.57 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0.34 Pain Relevance 0

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

Musk (Mus musculus)

Pain Link Frequency Relevance Heat anesthesia 1 7.68 Action potential 1 5.00 imagery 1 5.00

Disease Link Frequency Relevance Heat Congenital Myasthenic Syndromes 22 98.76 Congenital Anomalies 2 92.40 Myasthenia Gravis 3 5.00 Syndrome 3 5.00 Respiratory Failure 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

Together, these findings suggest that impaired MuSK phosphorylation, which is a feature common to CMS due to MUSK and DOK7 mutations, is a key factor responsible for the abnormal endplate formation and presynaptic differentiation seen in CMS resulting from abnormalities of the agrin-MuSK signal transduction pathway.

Negative_regulation (impaired) of Phosphorylation (phosphorylation) of MuSK associated with congenital myasthenic syndromes and congenital anomalies

1) Confidence 0.57 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.34 Pain Relevance 0

General Comments

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