Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports

Two patients with a paucisymptomatic hyperckemia underwent a skeletal muscle biopsy and massive gene panel to investigate mutations associated with inherited muscle disorders. In the SGCA gene, sequence analyses revealed a homozygous c.850C > T/p.Arg284Cys in patient 1 and two heterozygous varian...

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Detalles Bibliográficos
Autores principales: Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7783442/
https://www.ncbi.nlm.nih.gov/pubmed/33458577
http://dx.doi.org/10.36185/2532-1900-025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7783442/
https://www.ncbi.nlm.nih.gov/pubmed/33458577
http://dx.doi.org/10.36185/2532-1900-025

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