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Clinical Features of Skeletal Muscle and Their Underlying Molecular Mechanism

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Myotonic Dystrophy

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Abstract

The cardinal features of myotonic dystrophy are muscle stiffness (myotonia) and muscle wasting. RNA gain-of-function has been established as an underlying disease mechanism. Myotonia has been shown to be the result of the missplicing of chloride channel mRNA caused by changes to RNA-binding proteins, including MBNL and CELF. Many types of RNA that play essential roles in skeletal muscle function have been identified as possibly being implicated in muscle wasting. Recently, other mechanisms, such as repeat-associated non-ATG translation, have been proposed, and their contribution to muscle phenotypes is currently the subject of study.

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Acknowledgment

This work was partly supported by grants from the Ministry of Health, Labour and Welfare of Japan (H28-Nanchitou(Nan)-Ippan-030) and Japan Agency for Medical Research and Development (AMED) (17ek0109259).

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  1. Clinical Neurophysiology, Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Suita, Osaka, Japan

    Masanori P. Takahashi

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  1. Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Osaka, Japan

    Masanori P. Takahashi

  2. Department of Neurology, National Hospital Organization Toneyama National Hospital, Osaka, Japan

    Tsuyoshi Matsumura

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Takahashi, M.P. (2018). Clinical Features of Skeletal Muscle and Their Underlying Molecular Mechanism. In: Takahashi, M., Matsumura, T. (eds) Myotonic Dystrophy. Springer, Singapore. https://doi.org/10.1007/978-981-13-0508-5_3

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