Myology research highlights

Myotonic dystrophy type 1 is an autosomal dominant condition caused by a trinucleotide CTG repeat expansion in the 3′ untranslated region of the dystrophia myotonica protein kinase gene. The phenotypic features of myopathic facies, generalized weakness, and myotonia are thought to be dependent on repeat number, with larger expansions generally leading to earlier and/or more … [Read more]

Duchenne muscular dystrophy is due to a mutation on the X-chromosome, therefore it rarely affects women, unless there is an unequal lyonisation of the X-chromosome containing the normal dystrophin gene. This study reports the unique situation of a symptomatic Duchenne muscular dystrophy woman who was transplanted with myoblasts received from her asymptomatic monozygotic twin sister … [Read more]

Genome editing with engineered nucleases has recently emerged as an approach to correct genetic mutations by enhancing homologous recombination with a DNA repair template. However, many genetic diseases, such as Duchenne muscular dystrophy (DMD), can be treated simply by correcting a disrupted reading frame. In this study, the authors show that genome editing with transcription … [Read more]

Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous condition with >50 genes now being identified. Thanks to new technological developments, namely, exome sequencing, the ability to identify additional rare genes in CMT has been drastically improved. In this short report, the authors present data suggesting that MARS is a very rare novel cause of late-onset CMT2. … [Read more]

Spinal muscular atrophy (SMA) is caused by mutations of the survival motor neuron 1 (SMN1) gene, retention of the survival motor neuron 2 (SMN2) gene, and insufficient expression of full-length survival motor neuron (SMN) protein. Since SMA patients have at least one copy of SMN2, drug discovery campaigns have sought to identify SMN2 inducers. C5-substituted … [Read more]

Pompe disease is a neuromuscular disease resulting from deficiency in acid α-glucosidase (GAA), results in cardiac, skeletal muscle, and central nervous system (CNS) pathology. Enzyme replacement therapy (ERT) has been shown to partially correct cardiac and skeletal muscle dysfunction. However, ERT does not cross the blood-brain barrier and progressive CNS pathology ensues. Here, the authors … [Read more]

Of the seven autosomal dominant genetically distinct forms of LGMD so far described, in only four the causative gene has been identified (LGMD1A-1D). Herein the authors describe clinical, histopathological and muscle MRI features of a large Italo-Spanish kindred with LGMD1F presenting proximal-limb and axial muscle weakness. Complete clinical data were obtained and the progression of … [Read more]

Dysferlinopathy refers to a group of autosomal recessive muscular dystrophies due to mutations in the dysferlin gene causing deficiency of a membrane-bound protein crucially involved in plasma membrane repair. The condition is characterized by marked clinical heterogeneity, the different phenotypes/modes of presentation being unrelated to the genotype. For unknown reasons, patients are often remarkably active … [Read more]

Spinal muscular atrophy (SMA) is caused by loss of the Survival Motor Neuron 1 (SMN1) gene, resulting in reduced SMN protein. Humans possess the additional SMN2 gene (or genes) that does produce low level of full length SMN, but cannot adequately compensate for loss of SMN1 due to aberrant splicing. The majority of SMN2 gene … [Read more]

In a small percentage of patients with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, a mutation in the SOD1 gene has been found to cause a familial or inherited form of the disease.  This genetic link to ALS makes individuals that bear this mutation, ideal candidates to test exploratory new therapies that … [Read more]