INT211758

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Context Info
Confidence 0.13
First Reported 2007
Last Reported 2007
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 3
Disease Relevance 3.09
Pain Relevance 0.10

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

endosome (Mmd)
Anatomy Link Frequency
muscle 2
respiratory 1
Mmd (Rattus norvegicus)
Pain Link Frequency Relevance Heat
headache 3 72.40 Quite High
imagery 9 53.72 Quite High
agonist 6 12.44 Low Low
Inflammation 3 5.00 Very Low Very Low Very Low
antagonist 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 255 100.00 Very High Very High Very High
Malignant Hyperthermia 45 99.60 Very High Very High Very High
Central Core Disease 93 98.54 Very High Very High Very High
Muscle Disease 84 93.36 High High
Respiratory Failure 6 92.04 High High
Coronary Heart Disease 3 92.04 High High
Arthrogryposis 6 75.56 Quite High
Hypoventilation 3 75.44 Quite High
Scoliosis 15 72.84 Quite High
Headache 3 72.40 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The association with malignant hyperthermia (MH) is not as well documented as in CCD due to dominant RYR1 mutations [27], but clinical MH episodes have been recognized in few cases with MmD [28,29]; minicores have also been noted in muscle biopsies from families with MH susceptibility due to RYR1 mutations but no other clinical features of a congenital myopathy [30,31].
MmD Binding (recognized) of in muscle associated with muscle disease, disease, central core disease and malignant hyperthermia
1) Confidence 0.13 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1947955 Disease Relevance 1.47 Pain Relevance 0.03
Severe respiratory impairment is almost invariable in the classic phenotype of MmD secondary to SEPN1 mutations and has to be anticipated with a high degree of suspicion, as most patients remain independently mobile with only little functional impairment whilst already developing respiratory failure [7,8].
MmD Binding (phenotype) of in respiratory associated with respiratory failure and disease
2) Confidence 0.10 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1947955 Disease Relevance 0.86 Pain Relevance 0.07
Cores may vary substantially in size and morphology (Figure 3), to some extent depending on the genetic background: SEPN1-related MmD is typically associated with numerous small lesions scattered throughout the muscle fibre ("minicores"), whereas multiple larger lesions ("multicores") are more commonly seen in forms of MmD related to recessive mutations in the RYR1 gene; in the latter group, there may be a continuum with the histopathologic appearance of CCD, occasionally evolving over time as demonstrated in patients on consecutive muscle biopsies [23,56].
MmD Binding (associated) of in muscle associated with central core disease and disease
3) Confidence 0.10 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC1947955 Disease Relevance 0.75 Pain Relevance 0

General Comments

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