Novel Mutations Found in Individuals with Adult-Onset Pompe Disease

Pompe disease, or glycogen storage disease II is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid α-1,4-glucosidase enzyme (GAA). The severity of disease and observed time of onset is subject to the various combinations of heterozygous GAA alleles. Here w...

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Detalles Bibliográficos
Autores principales: Aung-Htut, May T., Ham, Kristin A., Tchan, Michel C., Fletcher, Sue, Wilton, Steve D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073677/
https://www.ncbi.nlm.nih.gov/pubmed/32012848
http://dx.doi.org/10.3390/genes11020135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073677/
https://www.ncbi.nlm.nih.gov/pubmed/32012848
http://dx.doi.org/10.3390/genes11020135

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