Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8343611 | Molecular Genetics and Metabolism | 2017 | 32 Pages |
Abstract
These results demonstrate that WES may fail to diagnose Pompe disease. Clinicians need to be aware of limitations of WES, and consider tests specific to Pompe disease when WES does not provide a diagnosis in patients with proximal myopathy, progressive respiratory failure or other subtle symptoms.
Keywords
SNVBurrows-Wheeler alignerBWACCDSLGMDHGMDCLIAInfantile-onset Pompe diseaseIOPDWESNGSWGSGAALOPDClinical Laboratory Improvement AmendmentsLate-onset Pompe diseasePompe diseaseNext-generation sequencingWhole-exome sequencingWhole-genome sequencinglimb girdle muscular dystrophyLimb-girdle muscular dystrophyGlycogen storage disease type IIHuman Gene Mutation DatabaseCreatine kinaseCaPguanine-cytosinesingle nucleotide variant
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Authors
Mari Mori, Gloria Haskell, Zoheb Kazi, Xiaolin Zhu, Stephanie M. DeArmey, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T. Cirulli, Priya S. Kishnani,