INT286716

Context Info Confidence 0.73 First Reported 2009 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 2 Total Number 5 Disease Relevance 1.03 Pain Relevance 0.07

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

Anatomy Link Frequency muscle 1 Musk (Mus musculus)

Pain Link Frequency Relevance Heat anesthesia 5 70.40 Action potential 4 5.00 imagery 4 5.00 cytokine 1 5.00 Inflammatory response 1 5.00

Disease Link Frequency Relevance Heat Congenital Myasthenic Syndromes 88 99.96 Respiratory Failure 8 98.76 Metabolic Syndrome 1 93.88 Congenital Anomalies 8 77.36 Syndrome 12 37.16 Disease 4 34.28 Muscle Weakness 8 24.80 Myasthenia Gravis 12 5.00 Targeted Disruption 7 5.00 Ocular Toxicity (including Many Sub-types) 4 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Finally, despite the fact that Tid1 interacts with the intracellular portion of MuSK, the patient's mutations do not affect the relationship between MuSK and Tid1.

Localization (portion) of MuSK

1) Confidence 0.73 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.31 Pain Relevance 0.07

-BGT) and the co-localization of the MuSK protein was visualized using a primary antibody directed against the N-terminal of human MuSK.

Localization (localization) of MuSK

2) Confidence 0.73 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0 Pain Relevance 0

Two heteroallelic MUSK mutations were identified in the first reported case of MUSK-associated CMS (5).

Localization (case) of MUSK associated with congenital myasthenic syndromes

3) Confidence 0.64 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.31 Pain Relevance 0

Two heteroallelic MUSK mutations were identified in the first reported case of MUSK-associated CMS (5).

Localization (case) of MUSK-associated associated with congenital myasthenic syndromes

4) Confidence 0.64 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.31 Pain Relevance 0

Using muscle-specific gene deletion in mice, we now show that p38?

Localization (deletion) of muscle-specific in muscle

5) Confidence 0.05 Published 2009 Journal PLoS ONE Section Abstract Doc Link PMC2775956 Disease Relevance 0.09 Pain Relevance 0

General Comments

This test has worked.