MCID: CNG032
MIFTS: 26
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Congenital Structural Myopathy
Categories:
Muscle diseases
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MalaCards integrated aliases for Congenital Structural Myopathy:Classifications: |
MalaCards based summary :
Congenital Structural Myopathy is related to centronuclear myopathy and nemaline myopathy, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Congenital Structural Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are nNOS Signaling in Skeletal Muscle and Cardiac conduction. Related phenotypes are behavior/neurological and growth/size/body region
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UMLS symptoms related to Congenital Structural Myopathy:muscle weakness, myalgia, muscle cramp, muscle rigidity, muscle spasticity MGI Mouse Phenotypes related to Congenital Structural Myopathy:45
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Search
GEO
for disease gene expression data for Congenital Structural Myopathy.
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Pathways related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:(show all 14)
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Cellular components related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:(show all 18)
Biological processes related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:(show all 19)
Molecular functions related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:
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