Genetics and Metabolism in Skeletal Muscle Disorders
A special issue of Metabolites (ISSN 2218-1989). This special issue belongs to the section "Cell Metabolism".
Deadline for manuscript submissions: closed (20 November 2022) | Viewed by 1914
Special Issue Editors
Interests: neuromuscular diseases; rare diseases, skeletal muscle; microscopy
Special Issue Information
Dear Colleagues,
In recent years, interest in skeletal muscle disorders has significantly increased, primarily motivated by the arrival of new investigative techniques and therapeutic perspectives.
The metabolic myopathies related to skeletal muscle are a heterogeneous group of rare, genetically determined conditions characterised by defects in the biochemical pathways of storage, mobilisation and utilisation of the substrates useful for energy generation and the contraction of muscle cells. They can develop at any age and have varying clinical presentations.
New and improved diagnostic tools are becoming increasingly available for some of these disorders, and targeted therapies for specific biochemical deficits have been developed.
The aims of this Special Issue are to a) explore the developments in our understanding and treatment of these conditions; b) highlight new treatments available for skeletal muscle disorders, e.g., Pompe’s disease. We welcome original research and brief case reports that focus on pathogenetic mechanisms; clinical features; and recent advances in the investigation and treatment of the principal metabolic muscle diseases, such as glycogen storage disorders (GSD), fatty acid oxidation disorders, disorders of purine metabolism and mitochondrial disorders. Research using cellular or animal models is also welcome.
Dr. Michela Ripolone
Dr. Simona Zanotti
Guest Editors
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Keywords
- metabolic myopathies
- biochemical pathways
- skeletal muscle
- rare diseases
- mitochondrial disorders
- new therapies
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