Human myopathies are a group of diseases that affect skeletal or cardiac muscles, causing structural and functional deterioration of muscle tissue. Myopathies can be inherited or acquired and affect any age group, from infants to the elderly. Some common types of human myopathies can be caused by mutations in genes encoding structural and contractile proteins of the heart and/or skeletal muscle.
Experimental and review papers of this Frontiers Research Topic will address the understudied area of human myopathies associated with mutations in the major structural and functional components of the sarcomere. We encourage the submission of papers describing recent molecular and structural advancements in myopathy research and those that explore new therapeutic approaches, e.g., pre-clinical models of heart disease, AAV-guided gene therapy, CRISPR/Cas9, exon-skipping treatment, as well as novel pharmacological/small molecule interventions.
We welcome studies that uncover novel regulatory mechanisms in thick and thin filaments of striated muscle and how they are altered in myopathic heart or skeletal muscle. The mission of our article collection is to compile experimental findings and review articles aimed at unraveling the complexity of human myopathies, improving our understanding of this research topic, and moving the field forward.
Prof. Danuta Szczesna-Cordary, Prof. Aldrin V. Gomes and Jose R. Pinto provide consulting services to Edgewise Therapeutic, Inc., Bio-Rad Laboratories and Kate Therapeutics, respectively.
Keywords: Myopathies, skeletal muscle, cardiac muscle, CRISPR/Cas9, gene therapy
Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
