Whole-exome sequencing detects PYGM variants in two adults with McArdle disease

McArdle disease is a debilitating glycogen storage disease with typical onset in childhood. Here, we describe a former competitive athlete with early adult-onset McArdle disease and a septuagenarian with a history of exercise intolerance since adolescence who was evaluated for proximal muscle weakne...

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Detalles Bibliográficos
Autores principales: Thomas-Wilson, Amanda, Dharmadhikari, Avinash V., Heymann, Jonas J., Jobanputra, Vaidehi, DiMauro, Salvatore, Hirano, Michio, Naini, Ali B., Ganapathi, Mythily
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958908/
https://www.ncbi.nlm.nih.gov/pubmed/35022222
http://dx.doi.org/10.1101/mcs.a006173

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958908/
https://www.ncbi.nlm.nih.gov/pubmed/35022222
http://dx.doi.org/10.1101/mcs.a006173

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