Genetic test for Mendelian fatigue and muscle weakness syndromes

Several inherited disorders involve chronic fatigue, muscle weakness and pain. These conditions can depend on muscle, nerve, brain, metabolic and mitochondrial defects. A major trigger of muscle weakness and fatigue is exercise. The amount of exercise that triggers symptoms and the frequency of symp...

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Detalles Bibliográficos
Autores principales: Kiani, Aysha Karim, Amato, Bruno, Maitz, Silvia, Nodari, Savina, Benedetti, Sabrina, Agostini, Francesca, Lorusso, Lorenzo, Capelli, Enrica, Dautaj, Astrit, Bertelli, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mattioli 1885 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023128/
https://www.ncbi.nlm.nih.gov/pubmed/33170160
http://dx.doi.org/10.23750/abm.v91i13-S.10642
Descripción
Sumario:Several inherited disorders involve chronic fatigue, muscle weakness and pain. These conditions can depend on muscle, nerve, brain, metabolic and mitochondrial defects. A major trigger of muscle weakness and fatigue is exercise. The amount of exercise that triggers symptoms and the frequency of symptoms are highly variable. In this review, the genetic causes and molecular pathways involved in these disorders are discussed along with the diagnostic and treatment options available, with the aim of fostering understanding of the disease and exploring therapeutic options. (www.actabiomedica.it)

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