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Loss of Function

Myasthenia Gravis

  • Genotype

    MuSK

  • Mechanism

    Loss of Function

  • Phenotype

    Vision impairment, Fatigue, Motor coordination, Reduced feeding, Endurance

  • Biomarker

    Acetylcholine Receptor, Anti-MuSK antibodies,Creatine kinase

  • Gene Expression Markers

    ACHE,CHRNA1, RAPSN, AGRN,LRP4 , DOK7,COLQ,FBXO32TRIM63, SOD1 ,GPX1,CD 4

  • Physiology Changes

    Paralysis, Muscle weakness, Weakness of respiratory muscles

  • Histology Grading Endpoint

    Disorganized postsynaptic membrane, Decreased receptor density, Preserved muscle architecture, Less thymic hyperplasia

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