Genetic test for Mendelian fatigue and muscle weakness syndromes.
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ABSTRACT:
SUBMITTER: Kiani AK
PROVIDER: S-EPMC8023128 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Publications
Genetic test for Mendelian fatigue and muscle weakness syndromes.
Kiani Aysha Karim AK Amato Bruno B Maitz Silvia S Nodari Savina S Benedetti Sabrina S Agostini Francesca F Lorusso Lorenzo L Capelli Enrica E Dautaj Astrit A Bertelli Matteo M
Acta bio-medica : Atenei Parmensis 20201109 13-S
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 ...[more]
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