LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism

Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous diseases presenting with a wide clinical spectrum. Autosomal dominant LGMDs represent about 10–15% of LGMDs and include disorders due to defects of DNAJB6, transportin-3 (TNPO3), HNRNPDL, Calpain-3 (CAPN3), and Bet...

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Detalles Bibliográficos
Autores principales: Costa, Roberta, Rodia, Maria Teresa, Pacilio, Serafina, Angelini, Corrado, Cenacchi, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931187/
https://www.ncbi.nlm.nih.gov/pubmed/35309568
http://dx.doi.org/10.3389/fneur.2022.840683

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931187/
https://www.ncbi.nlm.nih.gov/pubmed/35309568
http://dx.doi.org/10.3389/fneur.2022.840683

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