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Volume 2
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10.3390/muscles2020012
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Review

An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy

by
Naoufel Chabbi
1,
Corrado Angelini
2,* and
Alicia Aurora Rodriguez
3
1
Abulkacem Chebbi Medical Center, Tunis 1089, Tunisia
2
Campus Pietro D’Abano, University of Padova, 35128 Padova, Italy
3
Neuro-e-Motion Research Team, Faculty of Health Sciences, Department of Psychology, University of Deusto, 48007 Bilbao, Spain
*
Author to whom correspondence should be addressed.
Muscles 2023, 2(2), 164-176; https://doi.org/10.3390/muscles2020012
Submission received: 9 February 2023 / Revised: 14 March 2023 / Accepted: 22 March 2023 / Published: 3 April 2023
(This article belongs to the Special Issue Feature Papers in Muscles)
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Abstract

Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding muscle proteins that are defective for heterozygous and homozygous mutations prevalent in certain regions. Advances in knowledge of their pathophysiology have shed light on these rare diseases, which were, until recently, difficult to diagnose. This paper has described the process of diagnosis in autosomal recessive limb-girdle dystrophy that in Tunisia are due to the c.521del mutation in gamma-sarcoglycanopathy and to ethnically specific mutations in other countries such as Italy. The epidemiology, pathophysiology clinical features, and the main socioeconomic needs as well as research progress are discussed. We discuss an Italian case for its psychosocial impact and socioeconomic consideration and compare this case with Tunisian patients.
Keywords: limb-girdle muscular dystrophy; gamma-sarcoglycanopathy; Tunisian muscular dystrophy; quality of life; socioeconomic impact limb-girdle muscular dystrophy; gamma-sarcoglycanopathy; Tunisian muscular dystrophy; quality of life; socioeconomic impact

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MDPI and ACS Style

Chabbi, N.; Angelini, C.; Rodriguez, A.A. An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy. Muscles 2023, 2, 164-176. https://doi.org/10.3390/muscles2020012

AMA Style

Chabbi N, Angelini C, Rodriguez AA. An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy. Muscles. 2023; 2(2):164-176. https://doi.org/10.3390/muscles2020012

Chicago/Turabian Style

Chabbi, Naoufel, Corrado Angelini, and Alicia Aurora Rodriguez. 2023. "An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy" Muscles 2, no. 2: 164-176. https://doi.org/10.3390/muscles2020012

APA Style

Chabbi, N., Angelini, C., & Rodriguez, A. A. (2023). An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy. Muscles, 2(2), 164-176. https://doi.org/10.3390/muscles2020012

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