Myology research highlights

RNA-based therapeutic approaches using splice-switching oligonucleotides have been successfully applied to rescue dystrophin in Duchenne muscular dystrophy (DMD) preclinical models and are currently being evaluated in DMD patients. Although the modular structure of dystrophin protein tolerates internal deletions, many mutations that affect non-dispensable domains of the protein require further strategies. Among these, trans-splicing technology is … [Read more]

Pharmacologic strategies have provided modest improvement in the devastating muscle-wasting disease, Duchenne muscular dystrophy (DMD). Pre-clinical gene therapy studies have shown promise in the mdx mouse model; however studies conducted after disease onset fall short of fully correcting muscle strength or protecting against contraction-induced injury. Here, the authors examine the treatment effect on muscle physiology … [Read more]

Limb-girdle muscular dystrophy type 2A (LGMD2A) is the most frequent autosomal recessive muscular dystrophy. It is caused by mutations in the calpain-3 (CAPN3) gene. The majority of the mutations described to date are located in the coding sequence of the gene. However, it is estimated that 25% of the mutations are present at exon-intron boundaries … [Read more]

The authors of the present study have previously reported clinical, genetic and molecular pathomechanistic findings in DNAJB6 mutated LGMD1D. After publishing clinical findings of the original Finnish family, more Finnish, Italian and US families with the same disease were identified, ultimately confirmed by mutations in the same gene. Of the total number of 28 examined … [Read more]

Physical training might delay the functional deterioration caused by disuse in boys with Duchenne muscular dystrophy (DMD). The “No Use Is Disuse” study is the first explorative, randomized controlled trial in boys with DMD to examine whether assisted bicycle training is feasible, safe, and beneficial. Ambulatory and recently wheelchair-dependent boys with DMD were allocated to … [Read more]

Phosphorodiamidate morpholino oligomer (PMO)-mediated exon skipping is among the more promising approaches to the treatment of several neuromuscular disorders including Duchenne muscular dystrophy. The main weakness of this approach arises from the low efficiency and sporadic nature of the delivery of charge-neutral PMO into muscle fibers, the mechanism of which is unknown. In this study, … [Read more]

Demyelinating Charcot-Marie-Tooth disease (CMT) and chronic inflammatory demyelinating polyneuropathy (CIDP) are both demyelinating polyneuropathies. The differences in nerve enlargement degree and pattern at multiple evaluation sites/levels are not well known. In this study, the authors investigated the differences in nerve enlargement degree and the distribution pattern of nerve enlargement in patients with demyelinating CMT and … [Read more]

AFM-Telethon is pleased to announce its Call for Proposals 2014. Its mission is to determine targets for research priorities, and to present them to the Board of Directors of AFM, and to launch the corresponding Call for Proposals. It evaluates the suitability and quality of the proposed research programs, and oversees, a posteriori, the quality … [Read more]

SMA Europe is pleased to announce its 6th international Call for SMA Research Projects.This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease.The overall goal of SMA-Europe is to help the dedicated … [Read more]

Congenital disorders of glycosylation (CDG) are rare genetic defects mainly in the post-translational modification of proteins via attachment of carbohydrate chains. Here, the authors describe an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine kinase. Muscle biopsy showed muscular dystrophy and reduced α-dystroglycan … [Read more]