top of page
Myotonic Dystrophy Type 1
Loss of Function

Myotonic Dystrophy Type 1

  • Genotype

    Mbnl KO

  • Mechanism

    Loss of Function

  • Phenotype

    Cognitive disability, Motor dysfunction, Fatigue, Anxiety, Social isolation

  • Biomarker

    Creatine kinase, NfL, Tau Myoglobin, Insulin, Troponin T 

  • Gene Expression Markers

    MBNL1, MBNL2, CELF, CLCN1, INSR, TNNT2, BIN1, DMD, MYH7, ACTA1 

  • Physiology Changes

    Muscle atrophy, Muscle weakness, Myotonia, Arrhythmia, Dysphagia 

  • Histology Grading Endpoint

    Variation in fiber size, Presence of centralized nuclei in muscle fibers, Fiber necrosis, Fibrosis in cardiac muscle

bottom of page