Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

BACKGROUND: Late-onset Pompe disease (LOPD) is a rare treatable lysosomal storage disorder characterized by progressive lysosomal glycogen accumulation and muscle weakness, with often a limb-girdle pattern. Despite published guidelines, testing for LOPD is often overlooked or delayed in adults, owin...

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Detalles Bibliográficos
Autores principales: Lévesque, Sébastien, Auray-Blais, Christiane, Gravel, Elaine, Boutin, Michel, Dempsey-Nunez, Laura, Jacques, Pierre-Etienne, Chenier, Sébastien, Larue, Sandrine, Rioux, Marie-France, Al-Hertani, Walla, Nadeau, Amelie, Mathieu, Jean, Maranda, Bruno, Désilets, Valérie, Waters, Paula J., Keutzer, Joan, Austin, Stephanie, Kishnani, Priya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727295/
https://www.ncbi.nlm.nih.gov/pubmed/26809617
http://dx.doi.org/10.1186/s13023-016-0390-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727295/
https://www.ncbi.nlm.nih.gov/pubmed/26809617
http://dx.doi.org/10.1186/s13023-016-0390-6

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