An update of clinical, epidemiological, and psychosocial features in Gamma-Sarcoglycanopathy

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dc.contributor.authorChabbi, Naoufel
dc.contributor.authorAngelini, Corrado
dc.contributor.authorRodríguez Bermejo, Alicia Aurora
dc.date.accessioned2025-09-19T18:35:49Z
dc.date.available2025-09-19T18:35:49Z
dc.date.issued2023-04-03
dc.date.updated2025-09-19T18:35:49Z
dc.description.abstractLimb-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.en
dc.identifier.citationChabbi, N., Angelini, C., & Rodriguez, A. A. (2023). An update of clinical, epidemiological, and psychosocial features in Gamma-Sarcoglycanopathy [Review of An Update of Clinical, Epidemiological, and Psychosocial Features in Gamma-Sarcoglycanopathy]. Muscles, 2(2), 164-176. Multidisciplinary Digital Publishing Institute (MDPI). https://doi.org/10.3390/MUSCLES2020012
dc.identifier.doi10.3390/MUSCLES2020012
dc.identifier.eissn2813-0413
dc.identifier.urihttps://hdl.handle.net/20.500.14454/3692
dc.language.isoeng
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)
dc.rights© 2023 by the authors
dc.subject.otherGamma-sarcoglycanopathy
dc.subject.otherLimb-girdle muscular dystrophy
dc.subject.otherQuality of life
dc.subject.otherSocioeconomic impact
dc.subject.otherTunisian muscular dystrophy
dc.titleAn update of clinical, epidemiological, and psychosocial features in Gamma-Sarcoglycanopathyen
dc.typereview article
dcterms.accessRightsopen access
oaire.citation.endPage176
oaire.citation.issue2
oaire.citation.startPage164
oaire.citation.titleMuscles
oaire.citation.volume2
oaire.licenseConditionhttps://creativecommons.org/licenses/by/4.0/
oaire.versionVoR
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