Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
Abstract 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 d...
Main Authors: | , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2017-11-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13023-017-0722-1 |