Blog Archives

Duchenne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease caused by mutations in the dystrophin gene. Gene therapy using highly functional microdystrophin genes and recombinant adeno-associated virus (rAAV) vectors is an attractive strategy to treat DMD. Here, the authors show that locoregional and systemic delivery of a rAAV2/8 vector expressing a canine microdystrophin (cMD1) … [Read more]

  This multicentre, randomised, double-blind, placebo-controlled, phase 3 trial aimed to assess the efficacy and safety of ataluren in ambulatory boys with nonsense mutation Duchenne muscular dystrophy (DMD). Boys aged 7-16 years with nonsense mutation DMD and a baseline 6-minute walk distance (6MWD) of 150 m or more and 80% or less of the predicted … [Read more]

  This single point cross sectional study evaluated cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). The DMD patients were divided in 2 groups. Group A (N = 12) were under treatment with both deflazacort and perindopril, while Group B (n = 12) were under treatment … [Read more]

  Splice-site defects account for about 10% of pathogenic mutations that cause Mendelian diseases. Prevalence is higher in neuromuscular disorders (NMDs), owing to the unusually large size and multi-exonic nature of genes encoding muscle structural proteins. Therapeutic genome editing to correct disease-causing splice-site mutations has been accomplished only through the homology-directed repair pathway, which is … [Read more]

Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease (CMT2cc). However, the clinical spectrum of this condition and the physio-pathological pathway remain to be delineated. Here, the authors report two French families presenting with an axonal, dominantly inherited form of CMT characterized by prominent motor deficit affecting both the … [Read more]

Myasthenia gravis (MG) is a neuromuscular disease caused in most cases by anti-acetyl-choline receptor (AChR) autoantibodies that impair neuromuscular signal transmission and affect skeletal muscle homeostasis. Myogenesis is carried out by muscle stem cells called satellite cells (SCs). However, myogenesis in MG had never been explored. Here, researchers from the Institute of Myology* aimed to … [Read more]

  Here, the authors systematically review brain imaging studies in myotonic dystrophy type 1 (DM1) from 81 studies. They extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible. They conclude that DM1 brains show widespread white and … [Read more]

  The microrchidia family CW-type zinc finger 2 gene (MORC2) was newly identified as a causative gene of Charcot-Marie-Tooth disease (CMT) type 2Z in 2016. Here, the author describe the clinical and mutational spectrum of patients with CMT harboring MORC2 mutations in Japan, the largest report of patients harboring MORC2 variants. Samples from 781 unrelated … [Read more]

  This study aimed to demonstrate the feasibility of presymptomatic diagnosis spinal muscular atrophy (SMA) through newborn screening (NBS). A screening trial was performed to assess all newborns who underwent routine newborn metabolic screening at the National Taiwan University Hospital newborn screening center between November 2014 and September 2016. A real-time polymerase chain reaction (RT-PCR) … [Read more]