%0 Journal Article
%T Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
%A Amelie Nadeau
%A Bruno Maranda
%A Christiane Auray-Blais
%A Elaine Gravel
%A Jean Mathieu
%A Joan Keutzer
%A Laura Dempsey-Nunez
%A Marie-France Rioux
%A Michel Boutin
%A Paula J. Waters
%A Pierre-Etienne Jacques
%A Priya Kishnani
%A Sandrine Larue
%A Stephanie Austin
%A S¨¦bastien Chenier
%A S¨¦bastien L¨¦vesque
%A Val¨¦rie D¨¦silets
%A Walla Al-Hertani
%J Archive of "Orphanet Journal of Rare Diseases".
%D 2016
%R 10.1186/s13023-016-0390-6
%X 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, owing to its low frequency compared to other muscle disorders with similar muscle patterns. Next-generation sequencing has the capability to test concurrently for several muscle disorders. This could potentially lead to increased diagnosis of LOPD, disorders with non-specific muscle weakness or atypical patients
%K Pompe disease
%K Lysosomal disorders
%K Muscle disorders
%K Next-generation sequencing
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4727295/