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myotonín proteínkináza

  1. Subject h.myotonín proteínkináza
    Subject h.Myotonin-Protein Kinase
    Entry termsDM proteínkináza
    DMPK proteín
    myotonín proteínkináza pri myotonickej dystrofii
    MDPK proteín
    Scope note in EnglishSerine/threonine protein kinase responsible for various SKELETAL MUSCLE functions; HEART CONDUCTION SYSTEM activity; calcium HOMEOSTASIS; calcium uptake by SARCOPLASMIC RETICULUM and SYNAPTIC PLASTICITY. It is encoded by the DMPK gene and its abnormal EXPANDED TRINUCLEOTIDE REPEAT of CTG in the 3'-UTR is associated with MYOTONIC DYSTROPHY 1.
    See also reference (FX) in Slovak dystrofia myotonická
    See also reference (FX) in English Myotonic Dystrophy
    Links (1) - MeSH descriptor
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Number of the records: 1  

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