Pompe disease - Genetics Home Reference - NIH - adult onset pompe disease one gene


Pompe Disease - NORD (National Organization for Rare Disorders) adult onset pompe disease one gene

Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and Genetic and Rare Diseases Information Center.

Indeed, as shown in Figure 1, (%) of reported mutations are .. A novel mutation of the GAA gene in a Finnish late-onset Pompe.

Both these forms of Pompe disease are often grouped together as late-onset If an individual inherits one normal gene and one gene for the disease, the.