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Review
. 2020 Nov 9;91(13-S):e2020001.
doi: 10.23750/abm.v91i13-S.10642.

Genetic test for Mendelian fatigue and muscle weakness syndromes

Aysha Karim Kiani  1 , Bruno Amato  2 , Silvia Maitz  3 , Savina Nodari  4 , Sabrina Benedetti  5 , Francesca Agostini  6 , Lorenzo Lorusso  7 , Enrica Capelli  8 , Astrit Dautaj  9 , Matteo Bertelli  10
Affiliations
Review

Genetic test for Mendelian fatigue and muscle weakness syndromes

Aysha Karim Kiani et al. Acta Biomed. .

Abstract

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.

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Conflict of interest statement

Each author declares that he or she has no commercial associations (e.g. consultancies, stock ownership, equity interest, patent/licensing arrangement etc.) that might pose a conflict of interest in connection with the submitted article

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