Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

In recent years, adeno-associated virus (AAV) has become the most important vector for
central nervous system (CNS) gene therapy. AAV has already shown promising results in …

Macrophages are essential for skeletal muscle homeostasis, but how their dysregulation
contributes to the development of fibrosis in muscle disease remains unclear. Here, we used …

Viral vectors have been used for a broad spectrum of gene therapy for both acute and
chronic diseases. In the context of cancer gene therapy, viral vectors expressing anti-tumor …

Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a
defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ …

Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic
diseases caused by functional defects in specific lysosomal proteins. The lysosome is a …

Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically
described in the 19 th century, the genetic foundation of DMD was not discovered until more …

Pompe disease, also known as glycogen storage disease type II, is caused by the lack or
deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac …

Abstract Purpose of Review This review summarizes the clinical presentation and provides
an update on the current strategies for diagnosis of Pompe disease. We will review the …

Pompe disease is caused by deficiency of acid α-glucosidase (GAA), resulting in glycogen
accumulation in various tissues, including cardiac and skeletal muscles and the central …