Background We report clinical safety and biochemical efficacy from a dose-ranging study of
intravenously administered AVI-4658 phosphorodiamidate morpholino oligomer (PMO) in …

Background Mutations that disrupt the open reading frame and prevent full translation of
DMD, the gene that encodes dystrophin, underlie the fatal X-linked disease Duchenne …

With a prevalence between 1 and 3%, hereditary forms of intellectual disability (ID) are
among the most important problems in health care. Particularly, autosomal-recessive forms …

Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a
heterogeneous group of disorders often associated with brain and eye defects in addition to …

Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures
(lightning-like jerks), generalized convulsive seizures, and varying degrees of neurological …

Walker-Warburg syndrome (WWS) is clinically defined as congenital muscular dystrophy
that is accompanied by a variety of brain and eye malformations. It represents the most …

Mutations in several known or putative glycosyltransferases cause glycosylation defects in α-
dystroglycan (α-DG), an integral component of the dystrophin glycoprotein complex. The …

Duchenne muscular Dystrophy (DMD) is an inherited disease caused by mutations in the
dystrophin gene that disrupt the open reading frame, while in frame mutations result in …

We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS)
characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility …

Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the
open reading frame and prevent the full translation of its protein product, dystrophin …