Myology research highlights

Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features including intellectual disability. Here, the authors report the identification of mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous Syrian family presenting with LGMD and … [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]

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]

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]

Duchenne muscular dystrophy (DMD) typically occurs due to truncating mutations in the DMD gene that result in a lack of expression of the dystrophin protein in muscle fibers. A variety of therapies under development are directed toward restoring dystrophin expression at the subsarcolemmal membrane, including gene transfer. In a trial of intramuscular AAV-mediated delivery of … [Read more]

Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, the effect of salbutamol in five patients with Dok-7 CMS was analysed. Five patients (2 males and 3 females), with a mean age of 27±11.06years, who harboured … [Read more]

Mutations in FKRP gene are associated with a wide range of muscular dystrophies from mild limb-girdle muscular dystrophy (LGMD) 2I to severe Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The characteristic biochemical feature of these diseases is the hypoglycosylation of α-dystroglycan (α-DG). Currently there is no effective treatment available. In this study the Adeno-associated virus … [Read more]

DART Therapeutics Inc., an innovative, new-model biotechnology firm focused on developing therapies for Duchenne muscular dystrophy (DMD), has initiated a phase 1b/2a study of its lead drug candidate, HT-100 (delayed-release halofuginone). The phase 1b study (with a six-month 2a extension) in patients will determine the safety and tolerability of different, increasing doses of HT-100, and … [Read more]

Dysferlinopathies are caused by mutations in the DYSF gene. Dysferlin is a protein mainly expressed in skeletal muscle and monocytes. Cell therapy constitutes a promising tool for the treatment of muscular dystrophies. The aim of this study was to evaluate the effect of bone marrow transplantation (BMT) using the A/J Dysfprmd mouse model of dysferlinopathy. … [Read more]

Duchenne muscular dystrophy (DMD), the most common inherited muscular dystrophy of childhood, leads to death due to cardiorespiratory failure. Paradoxically, mdx mice with the same genetic deficiency of dystrophin exhibit minimal cardiac dysfunction, impeding the development of therapies. Herein the authors postulated that the difference between mdx and DMD might result from differences in telomere … [Read more]