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Case Reports
. 2020 Jan 14;8(2):283-288.
doi: 10.1002/ccr3.2607. eCollection 2020 Feb.

Case report of an exercise training and nutritional intervention plan in a patient with A350P mutation in DES gene

Camila Monje  1 , Sebastian Jannas-Vela  1 , Keith Baar  2 , Hermann Zbinden-Foncea  1   3
Affiliations
Case Reports

Case report of an exercise training and nutritional intervention plan in a patient with A350P mutation in DES gene

Camila Monje et al. Clin Case Rep. .

Abstract

Performing a supplementation intervention with creatine and protein, in conjunction with low-intensity endurance and resistance exercise is safe and has a positive effect on the quality of life in a patient with desminopathy.

Keywords: creatine; desmin; desminopathy; exercise; neuromuscular disease.

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Conflict of interest statement

None declared.

Figures

Figure 1
Figure 1
Image of arm cycle ergometer exercise
Figure 2
Figure 2
Images of blood flow restricted exercises. Bicep curl (A); pull down (B); pull up (C); quadricep isometric (D, F); and hip abduction and adduction (E)
Figure 3
Figure 3
Time (s) to perform timed up and go test
Figure 4
Figure 4
World Health Organization Quality of Life‐BREF (WHOQOL‐BREF) (A); multidimensional assessment of fatigue (MAF) (B); and functional independence measure (FIM) (C)
See this image and copyright information in PMC

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References

    1. Goldfarb LG, Olivé M, Vicart P, Goebel HH. Intermediate filament diseases: desminopathy. Adv Exp Med Biol. 2008;642:131‐164. - PMC - PubMed
    1. Lazarides E, Hubbard BD. Immunological characterization of the subunit of the 100 A filaments from muscle cells. Proc Natl Acad Sci U S A. 1976;73(12):4344‐4348. - PMC - PubMed
    1. Granger BL, Lazarides E. The existence of an insoluble Z disc scaffold in chicken skeletal muscle. Cell. 1978;15(4):1253‐1268. - PubMed
    1. Tokuyasu KT, Dutton AH, Singer SJ. Immunoelectron microscopic studies of desmin (skeletin) localization and intermediate filament organization in chicken cardiac muscle. J Cell Biol. 1983;96(6):1736‐1742. - PMC - PubMed
    1. Clemen CS, Herrmann H, Strelkov SV, Schröder R. Desminopathies: pathology and mechanisms. Acta Neuropathol. 2013;125(1):47‐75. - PMC - PubMed

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