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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Veröffentlicht in:	Orphanet Journal of Rare Diseases 2017, Vol.12 (1), p.173-184
Hauptverfasser:	Johnson, K, Töpf, A, Bertoli, M, Phillips, L, Claeys, Kristl, Stojanovic, V, Perić, S, Hahn, A, Maddison, P, Akay, E, Bastian, A, Łusakowska, A, Kostera-Pruszczyk, A, Lek, M, Xu, L, MacArthur, D, Straub, V
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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