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dystrofia myotonická

  1. Subject h.dystrofia myotonická
    Subject h.Myotonic Dystrophy
    Entry termsdystrophia myotonica
    Steinertova choroba
    dystrofia myotonická kongenitálna
    dystrofia myotonická vrodená
    myotonia atrophica
    myopatia myotonická proximálna
    Rickerov syndróm
    English X referencesDystrophia Myotonica
    Myotonic Dystrophy, Congenital
    Myotonic Myopathy, Proximal
    Steinert Disease
    Scope note in EnglishNeuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
    See also reference (FX) in Slovak expanzia trinukleotidových repetícií
    expanzia repetícií DNA
    myotonín proteínkináza
    See also reference (FX) in English Trinucleotide Repeat Expansion
    DNA Repeat Expansion
    Myotonin-Protein Kinase
    Links (46) - ARTICLES
    (3) - MeSH descriptor
    (8) - CiBaMed
    (5) - BOOKS
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Number of the records: 1  

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