Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide
spectrum of clinical phenotypes. Recent advances in understanding the molecular …

Aim An international C linical O utcomes G roup consisting of clinicians, scientists, patient
advocacy groups, and industries identified a need for a scale to measure motor performance …

We reviewed the notes of 197 patients with Duchenne muscular dystrophy whose treatment
was managed at the Newcastle muscle centre from 1967 to 2002, to determine whether …

Objective Myostatin is an endogenous negative regulator of muscle growth and a novel
target for muscle diseases. We conducted a safety trial of a neutralizing antibody to …

We have performed a detailed population study of patients with genetic muscle disease in
the northern region of England. Our current clinic population comprises over 1100 patients …

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 …

Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare
neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of …

OBJECTIVES: To determine the long term survival in patients with Duchenne muscular
dystrophy (DMD) following spinal surgery and nocturnal ventilation. STUDY DESIGN: A …

Background Duchenne muscular dystrophy is caused by dystrophin deficiency and muscle
deterioration and preferentially affects boys. Antisense-oligonucleotide-induced exon …

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