Myology research highlights

Mutations in GFPT1 underlie a congenital myasthenic syndrome characterised by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of proteins and lipids. It is expressed ubiquitously and it is not readily apparent why mutations in this gene … [Read more]

This review was performed to examine the evidence for non-surgical interventions for preventing scoliosis and the need for scoliosis surgery in children with Duchenne muscular dystrophy. Medline and Embase databases and reference lists from key articles were searched. After the inclusion and exclusion criteria were applied, 13 studies were critically appraised independently by two reviewers. … [Read more]

In 2001, the authors of the present study reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but the identity of the mutant gene was elusive. Here, using a whole genome sequencing strategy, they identified the causative mutation of limb-girdle muscular dystrophy 1F, a heterozygous single … [Read more]

Hereditary motor and sensory neuropathy with proximal dominance (HMSN-P) has been reported as a rare type of autosomal dominant adult-onset Charcot-Marie-Tooth disease. HMSN-P has been described only in Japanese descendants since 1997, and the causative gene has not been found. In this genetic and observational analysis study, the authors aimed to identify the genetic cause … [Read more]

 Spinal Muscular Atrophy (SMA) presents challenges in (i) monitoring disease activity and predicting progression, (ii) designing trials that allow rapid assessment of candidate therapies, and (iii) understanding molecular causes and consequences of the disease. Validated biomarkers of SMA motor and non-motor function would offer utility in addressing these challenges. The objectives of this study were … [Read more]

The loss of dystrophin or its associated proteins results in the development of muscle wasting frequently associated with a cardiomyopathy. Contractile cardiac tissue is injured and replaced by fibrous tissue or fatty infiltrates, leading to progressive decrease of the contractile force and finally to end-stage heart failure. At the time symptoms appear, restoration of a … [Read more]

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are thought to belong to a spectrum of neurodegenerative disorders with sharedclinicopathological and genetic features. ALS is a fatal disease in which motor neurons in the brain and spinal cord degenerate. As the illness progresses, patients lose the ability to walk, talk and breathe. FTD is a … [Read more]

Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. Three different aspects have been investigated by members of the national French CMS Network: the difficulties in making a proper diagnosis; the course and long-term prognosis; and the response to … [Read more]

In this study, an international team has published the results of a decade’s worth of work: they have developed a new mouse model with the same genetic alterations that cause human facioscapulohumeral muscular dystrophy (FSHD). This model can be used to evaluate and optimise future therapeutic strategies for FSHD. The molecular underpinnings of types 1 … [Read more]

Complement activation at the neuromuscular junction is a primary cause of acetylcholine receptor loss and failure of neuromuscular transmission in myasthenia gravis (MG). Eculizumab, a humanized monoclonal antibody, blocks the formation of terminal complement complex by specifically preventing the enzymatic cleavage of C5. This was a randomized, double-blind, placebo-controlled, crossover trial in 14 patients with … [Read more]