Genotype-phenotype correlation in Pompe disease, a step forward.

ABSTRACT:

Background

Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family.

Methods

For a large series of GSDII patients we collected some clinical data as age of onset of the disease, presence or absence of muscular pain, Walton score, 6-Minute Walking Test, Vital Capacity, and Creatine Kinase. DNA was extracted and tested for GAA mutations and some genetic polymorphisms able to influence muscle properties (ACE, ACTN3, AGT and PPARα genes).We compared the polymorphisms analyzed in groups of patients with Pompe disease clustered for their homogeneous genotype.

Results

We have been able to identify four

SUBMITTER: De Filippi P 

PROVIDER: S-EPMC4249737 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature