Correlation Engine 2.0
Clear Search sequence regions

  • humans (2)
  • mice (1)
  • research (1)
  • sarcoglycans (2)
  • skeletal muscle (1)
  • Sizes of these terms reflect their relevance to your search.

    Skeletal muscle, the most abundant tissue in the body, is heterogeneous. This heterogeneity forms the basis of muscle diversity, which is reflected in the specialized functions of muscles in different parts of the body. However, these different parts are not always clearly delimitated, and this often gives rise to gradients within the same muscle and even across the body. During the last decade, several studies on muscular disorders both in mice and in humans have observed particular distribution patterns of muscle weakness during disease, indicating that the same mutation can affect muscles differently. Moreover, these phenotypical differences reveal gradients of severity, existing alongside other architectural gradients. These two factors are especially prominent in sarcoglycanopathies. Nevertheless, very little is known about the mechanism(s) driving the phenotypic diversity of the muscles affected by these diseases. Here, we will review the available literature on sarcoglycanopathies, focusing on phenotypic differences among affected muscles and gradients, characterization techniques, molecular signatures, and cell population heterogeneity, highlighting the possibilities opened up by new technologies. This review aims to revive research interest in the diverse disease phenotype affecting different muscles, in order to pave the way for new therapeutic interventions.


    Carles Sánchez Riera, Biliana Lozanoska-Ochser, Stefano Testa, Ersilia Fornetti, Marina Bouché, Luca Madaro. Muscle Diversity, Heterogeneity, and Gradients: Learning from Sarcoglycanopathies. International journal of molecular sciences. 2021 Mar 02;22(5)

    Expand section icon Mesh Tags

    Expand section icon Substances

    PMID: 33801487

    View Full Text