Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

BACKGROUND: Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blo...

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Detalles Bibliográficos
Autores principales: Johnson, Katherine, Töpf, Ana, Bertoli, Marta, Phillips, Lauren, Claeys, Kristl G., Stojanovic, Vidosava Rakocevic, Perić, Stojan, Hahn, Andreas, Maddison, Paul, Akay, Ela, Bastian, Alexandra E., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Lek, Monkol, Xu, Liwen, MacArthur, Daniel G., Straub, Volker
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693551/
https://www.ncbi.nlm.nih.gov/pubmed/29149851
http://dx.doi.org/10.1186/s13023-017-0722-1

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