Myology research highlights

Muscle fibers form as a result of myoblast fusion, yet the cell surface receptors regulating this process are unknown in vertebrates. In Drosophila, myoblast fusion involves the activation of the Rac pathway by the guanine nucleotide exchange factor Myoblast City and its scaffolding protein ELMO, downstream of cell-surface cell-adhesion receptors. The authors have previously demonstrated … [Read more]

The Performance of Upper Limb was specifically designed to assess upper limb function in Duchenne muscular dystrophy (DMD). The aim of this study was to assess (1) a cohort of typically developing children from the age of 3 years onwards in order to identify the age when the activities assessed in the individual items are … [Read more]

Necrotizing autoimmune myopathies (NAM) have recently been defined as a distinct group of severe acquired myopathies, characterized by prominent myofiber necrosis without significant muscle inflammation. Because of the lack of appropriate biomarkers, these diseases have been long misdiagnosed as atypical forms of myositis. NAM may be associated with autoantibodies directed against signal recognition particle (SRP) … [Read more]

To ascertain the frequency of childhood myasthenia in the UK, the authors specifically aimed to identify the detected incidence of autoimmune myasthenia and the detected prevalence of genetically confirmed congenital myasthenic syndrome (CMS) in children. All children under 18 years of age on 31 December 2009 with a confirmed CMS genetic mutation were identified by … [Read more]

This study sought to compare the effectiveness and safety of an angiotensin converting enzyme inhibitor (ACE-I) (lisinopril) vs. an angiotensin receptor blocker (ARB) (losartan) for the treatment of cardiomyopathy (CM) in boys with Duchenne muscular dystrophy (DMD). Development of CM is universal in boys with DMD. ACE-I and ARB have both been suggested as effective … [Read more]

Sarcoglycanopathies are autosomic recessive muscular dystrophies, secondary to mutations of the sarcoglycan complex. Heart can be involved in sarcoglycanopathies. Herein, the authors aimed to analyse left ventricular function in patients with alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. They conducted a retrospective study that aimed to analyse clinical and echocardiographic data of patients with sarcoglycanopathies. They included 19 patients: … [Read more]

 Loss-of-function mutations in the myotubularin gene (MTM1) cause X-linked myotubular myopathy (XLMTM), a fatal, congenital pediatric disease that affects the entire skeletal musculature. Systemic administration of a single dose of a recombinant serotype 8 adeno-associated virus (AAV8) vector expressing murine myotubularin to Mtm1-deficient knockout mice at the onset or at late stages of the disease … [Read more]

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy caused by mutations in the dystrophin gene. DMD is characterized by progressive muscle wasting and weakness, with the onset of symptoms occurring in the early childhood and consequently leading to paralysis and death for respiratory or cardiac failure. There is no cure and glucocorticoids are … [Read more]

Development of novel therapeutics requires good animal models of disease. Disorders for which good animal models do not exist have very few drugs in development or clinical trial. Even where there are accepted, albeit imperfect models, the leap from promising preclinical drug results to positive clinical trials commonly fails, including in disorders of skeletal muscle. … [Read more]

Cardiac dysfunction is the second leading cause of death in myotonic dystrophy type 1 (DM1), primarily because of arrhythmias and cardiac conduction defects. A screen of more than 500 microRNAs (miRNAs) in a DM1 mouse model identified 54 miRNAs that were differentially expressed in heart. More than 80% exhibited downregulation toward the embryonic expression pattern … [Read more]