Myology research highlights

A recently opened global registry is seeking people with the type 2A form of limb-girdle muscular dystrophy (LGMD2A), which results from a deficiency of the calpain 3 protein. The LGMD2A Patient Registry is designed to be filled out online. It asks for basic demographic information and data about symptoms, diagnosis, functional level, equipment and treatments, … [Read more]

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). Researchers from the Institute of Myology participated in this study that reports an Iranian patient in whom CMS was diagnosed since he presented with … [Read more]

Neutral lipid storage disease with myopathy (NLSDM) is caused by a mutation in the gene encoding adipose triglyceride lipase (ATGL), and is characterized by the presence of numerous triglyceride-containing cytoplasmic droplets in type I muscle fibers. Major clinical manifestations concern the heart and skeletal muscle, and some patients also present diabetes mellitus. Herein, researchers from … [Read more]

Ataluren is the only treatment currently in clinical development targeting patients with a nonsense mutation. Dr. Jay Barth, Vice President for Clinical Development at PTC Therapeutics hosted a webinar about the study design and timeline for ataluren development. The webinar focussed on the results from the Phase 2b study and set-up of the Phase 3 … [Read more]

Edison Pharmaceuticals has started a phase 2B study, which will investigate new treatments for Friedreich’s ataxia. The trial is entitled Safety and Efficacy Study of EPI-743 on Visual Function in Patients with Friedreich’s Ataxia. It is placebo-controlled and will last six months, before an extension phase begins where subjects will receive EPI-743. Those contributing to … [Read more]

Congenital myasthenic syndromes (CMS) are a group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. This is a heterogeneous group of disorders with 15 different genes implicated in the development of the disease. Using whole-exome sequencing the authors of the present study identified … [Read more]

The molecular basis underlying the clinical variability in symptomatic Duchenne muscular dystrophy (DMD) carriers are still to be precised. This article describes 26 cases of early symptomatic DMD carriers followed in the French neuromuscular network. Clinical presentation, muscular histological analysis and type of gene mutation, as well as X-chromosome inactivation (XCI) patterns using DNA extracted … [Read more]

Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular dystrophy. Their hallmark is a reduction in the functional glycosylation of α-dystroglycan, which can be detected in muscle biopsies. An important part of this … [Read more]

Hereditary motor and sensory disorders of the peripheral nerve form one of the most common groups of human genetic diseases collectively called Charcot-Marie-Tooth (CMT) neuropathy. Using linkage analysis in a three-generation kindred, the authors of this study mapped a new locus for X-linked dominant CMT to chromosome Xp22.11. A microsatellite scan of the X chromosome … [Read more]

Researchers from the Institute of Myology recently demonstrated the remarkable efficiency of self-complementary (sc) AAV9 vectors for central nervous system (CNS) gene transfer following intravenous delivery in mice and larger animals. In this article, the same researchers investigated whether gene delivery to motor neurons (MNs) could also be achieved via intramuscular (i.m.) scAAV9 injection and … [Read more]