INT237352

Context Info Confidence 0.20 First Reported 2008 Last Reported 2008 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 0 Pain Relevance 0

cytosol (QDPR) mitochondrion (QDPR) small molecule metabolic process (QDPR) oxidoreductase activity (QDPR) cellular nitrogen compound metabolic process (QDPR) cellular amino acid metabolic process (QDPR)

Anatomy Link Frequency skeletal muscle 1 QDPR (Homo sapiens)

Pain Link Frequency Relevance Heat Inflammation 2 5.00 ketamine 1 5.00 anesthesia 1 5.00 sodium channel 1 5.00 Sciatic nerve 1 5.00

Disease Link Frequency Relevance Heat Congenital Structural Myopathies 17 50.00 Muscle Weakness 4 12.64 Frailty 2 11.04 Cytomegalovirus Infection 13 5.00 Disease 5 5.00 Muscle Disease 5 5.00 Charcot Marie Tooth Disease 4 5.00 Demyelinating Disease 2 5.00 Death 2 5.00 INFLAMMATION 2 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Our results indicate that when highly overexpressed in skeletal muscle, myotubularin alters membrane homeostasis leading to the formation of packed membrane assemblies close to the sarcolemma and of vacuoles that are positive for dystrophin, caveolin-3 and DHPR?

Positive_regulation (positive) of DHPR in skeletal muscle

1) Confidence 0.20 Published 2008 Journal Human Molecular Genetics Section Body Doc Link PMC2441725 Disease Relevance 0 Pain Relevance 0

General Comments

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