Mitochondrial variants in pompe disease: a comparison between classic and non-classic forms

ABSTRACT

Objective: Pompe disease [PD] is a progressive neuromuscular disorder that is caused by glucosidase acid alpha [GAA] deleterious mutations. Mitochondrial involvement is an important contributor to neuromuscular diseases. In this study the sequence of MT-ATP 6/8 and Cytochrome C oxidase I/II genes along with the expression levels of the former genes were compared in classic and non-classic patients