Despite scientific discoveries in the field of gene and cell therapy, some diseases still have
no effective treatment. Advances in genetic engineering methods have enabled the …

Highlights•Only intravascular delivery can truly change the course of systemic
diseases.•AAV has the capacity to escape from the blood and lead to bodywide gene …

Duchenne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease
caused by mutations in the dystrophin gene. Gene therapy using highly functional …

Objective α‐Sarcoglycan deficiency results in a severe form of muscular dystrophy (limb‐
girdle muscular dystrophy type 2D [LGMD2D]) without treatment. Gene replacement …

Deficiency of the dysferlin protein presents as two major clinical phenotypes: limb–girdle
muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin is known to participate in …

Hepatocyte-restricted, AAV-mediated gene transfer is being used to provide sustained,
tolerogenic transgene expression in gene therapy. However, given the episomal status of …

Sarcoglycanopathies are a group of autosomal recessive muscle-wasting disorders caused
by genetic defects in one of four cell membrane glycoproteins, α-, β-, γ-or δ-sarcoglycan …

Limb girdle muscular dystrophies types 2B (LGMD2B) and 2D (LGMD2D) are degenerative
muscle diseases caused by mutations in the dysferlin and alpha-sarcoglycan genes …

The increased understanding of the genes and pathogenic mechanism of the LGMDs will
improve diagnostic processes and prognostic accuracy, and promote therapeutic strategies …

Abstract Myotubular myopathy (XLMTM, OMIM 310400) is a severe congenital muscular
disease due to mutations in the myotubularin gene (MTM1) and characterized by the …