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

ABSTRACT:

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, 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.

Methods

We developed a gene panel to further study its clinical utility in a cohort of patients with suspected muscle disorders. We designed a gene panel to analyze the coding

SUBMITTER: Levesque S 

PROVIDER: S-EPMC4727295 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature