Exploring the mammalian neuromuscular system by analysis of mutations: Spinal muscular atrophy and myotonia
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Cited by (8)
Chapter 7 Sailing Side by Side
2008, Comprehensive BiochemistryCitation Excerpt :As a referee of our SFB he used to say: “The ADR mouse is a wonderful model of our stimulation experiments,” but my version was “Dirk Pette's stimulation experiments provide a nice model of myotonic muscle.” Not only does myotonia influence, via the excitation pattern, mRNA levels of myogenic factors and, probably indirectly, levels of all proteins characteristic for muscle fiber type [50,52,69,70], but also the level of ClC-1 mRNA and thereby by the function of its own protein product [71], leading to a closed loop of relation between excitability and gene expression in muscle [72] (Figure 7, lower part). Interestingly, there is a post-transcriptional dosage compensation, ensuring that the sarcolemmal chloride conductance is equal (and typical for the fiber type) whether there is a full dosage of ClC-1 mRNA (as in the homozygous wild type) or half the concentration as in heterozygous +/adr animals [73].
Mutual interference of myotonia and muscular dystrophy in the mouse: A study on ADR-MDX double mutants
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