objective: pompe disease is a rare neuromuscular genetic disorder and is classified into two forms of early and late-onset. over the past two decades, mitochondrial abnormalities have been recognized as an important contributor to an array of neuromuscular diseases. we therefore aimed to compare mitochondrial copy number and mitochondrial displacement-loop sequence variation in infantile and ad...

Gains and losses of large segments genomic DNA, known as copy number variants (CNVs) gained considerable interest in clinical diagnostics lately, particular forms may lead to inherited genetic diseases. In recent decades, researchers developed a wide variety cytogenetic molecular methods with different detection capabilities detect clinically relevant CNVs. this review, we summarize methodologi...