Introduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations
are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of …

Rationale: Nonsense (premature stop codon) mutations in mRNA for the cystic fibrosis
transmembrane conductance regulator (CFTR) cause cystic fibrosis (CF) in approximately 10% of …

In a subset of patients with cystic fibrosis (CF), nonsense mutations (premature stop codons)
disrupt production of full-length, functional CF transmembrane conductance regulator (CFTR…

In this study we used the 6‐minute walk distance (6MWD) to characterize ambulation over
time in Duchenne/Becker muscular dystrophy (DBMD). The 6MWD was assessed in 18 boys …

Background Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a
nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the …

Introduction: An international clinical trial enrolled 174 ambulatory males ≥5 years old with
nonsense mutation Duchenne muscular dystrophy (nmDMD). Pretreatment data provide …

Walking abnormalities are prominent in Duchenne muscular dystrophy (DMD). We modified
the 6‐minute walk test (6MWT) for use as an outcome measure in patients with DMD and …

Introduction: Duchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense
mutations were followed for 48 weeks in a multicenter, randomized, double‐blind, placebo‐…

Introduction: In 2004, a Cochrane Review and AAN practice parameter concluded that
prednisone 0.75 mg/kg/day is of short‐term efficacy in Duchenne muscular dystrophy (DMD). …

Background Little information is available regarding the burden of living with and managing
epidermolysis bullosa, including the distinct challenges faced by patients with different …