INT312282

Context Info Confidence 0.52 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 1 Total Number 1 Disease Relevance 1.16 Pain Relevance 0

Anatomy Link Frequency muscle 1 Col9a3 (Mus musculus)

Pain Link Frequency Relevance Heat fibrosis 2 5.00 Osteoarthritis 2 5.00 corticosteroid 1 5.00 Action potential 1 5.00 Pain 1 5.00 antagonist 1 5.00

Disease Link Frequency Relevance Heat Osteochondrodysplasias 27 99.70 Muscle Weakness 7 98.64 Muscle Disease 23 95.76 Disease 16 81.00 Death 1 53.64 Stress 5 53.04 Osteoarthritis 7 27.40 Joint Instability 1 25.64 Genu Valgum 1 25.04 Genu Varum 2 24.40

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

In an MED family with a COL9A3 mutation patients presented with proximal muscle weakness (despite predominantly distal skeletal changes) and mildly elevated levels of creatine kinase (CK; an indicator of muscle degeneration and myopathy).

Gene_expression (mutation) of COL9A3 in muscle associated with osteochondrodysplasias, muscle disease and muscle weakness

1) Confidence 0.52 Published 2010 Journal Journal of Biomedicine and Biotechnology Section Body Doc Link PMC2875749 Disease Relevance 1.16 Pain Relevance 0

General Comments

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