INT331973

Context Info Confidence 0.64 First Reported 2010 Last Reported 2010 Negated 0 Speculated 0 Reported most in Body Documents 4 Total Number 5 Disease Relevance 3.83 Pain Relevance 0.40

cytoplasm (MYOT)

Anatomy Link Frequency lateral 1 proximal 1 MYOT (Homo sapiens)

Pain Link Frequency Relevance Heat imagery 360 76.48 Inflammation 32 64.32 Pain 3 5.00 lidocaine 2 5.00 anesthesia 2 5.00

Disease Link Frequency Relevance Heat Muscular Dystrophy 111 100.00 Hypoxia 62 96.76 Frailty 38 95.80 Muscle Weakness 9 92.56 Muscle Disease 153 88.80 Oculopharyngeal Muscular Dystrophy 15 88.00 Rheumatoid Arthritis 8 83.68 INFLAMMATION 26 64.32 Sarcoglycanopathies 15 46.80 Stress 4 34.08

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

All eight patients who did not fulfil the criteria for desmin and myotilin mutations and who had more involvement of the medial than the lateral gastrocnemius showed a filamin C mutation.

Gene_expression (mutations) of myotilin in lateral

1) Confidence 0.64 Published 2010 Journal Eur Radiol Section Body Doc Link PMC2940021 Disease Relevance 0.79 Pain Relevance 0.10

Two of the three remaining patients had a ZASP and the third a myotilin mutation Other muscular dystrophies

Gene_expression (mutation) of myotilin associated with muscular dystrophy

2) Confidence 0.64 Published 2010 Journal Eur Radiol Section Body Doc Link PMC2940021 Disease Relevance 1.10 Pain Relevance 0.13

Early onset (proximal) LGMD and dystrophinopathies

Gene_expression (proximal) of LGMD in proximal associated with muscular dystrophy

3) Confidence 0.56 Published 2010 Journal Eur Radiol Section Body Doc Link PMC2940021 Disease Relevance 1.51 Pain Relevance 0.13

In the present study, we sought to match energy expenditure at altitude with those at sea level and provided the subjects with excess food, which in our setting may have maintained the myofibrillar protein synthesis high.

Gene_expression (synthesis) of myofibrillar protein

4) Confidence 0.22 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004931 Disease Relevance 0.13 Pain Relevance 0.03

Therefore, the measured overall elevation in protein turnover with hypoxia exposure, which also is likely to have been the case for the myofibrillar protein breakdown rate, may have been counterbalanced by a concomitant increase in the myofibrillar protein synthesis rate.

Gene_expression (synthesis) of myofibrillar protein associated with hypoxia

5) Confidence 0.17 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004931 Disease Relevance 0.30 Pain Relevance 0

General Comments

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