Myology research highlights

Duchenne muscular dystrophy (DMD) is a fatal, X-linked neuromuscular disease that affects 1 boy in 3500 to 5000 boys. The golden retriever muscular dystrophy dog is the best clinically relevant DMD animal model. Here, the authors used a high-thoughput miRNA sequencing screening for identification of candidate serum miRNA biomarkers in golden retriever muscular dystrophy dogs. … [Read more]

Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder caused by mutations in the dystrophin gene, without curative treatment yet available. This study is the first to provide the overall safety profile and therapeutic dose of a recombinant adeno-associated virus vector, serotype 8 (rAAV8) carrying a modified U7snRNA sequence. This sequence promotes exon skipping to … [Read more]

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that results in functional deficits. However, these functional declines can often not be quantified in clinical trials for DMD until after age 7. In this study, the authors hypothesized that 1H2O T2 derived using 1H-MRS and MRI-T2 will be sensitive to muscle involvement at a young … [Read more]

Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle and severe weakness from birth. Targeted next-generation sequencing in two brothers with congenital muscular dystrophy … [Read more]

Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), in which carriers of the GDAP1 p.R120W mutation can display a wide range of clinical severity. Here, the authors investigated the junctophilin-1 (JPH1) … [Read more]

A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myopathy characterized by weakness, fatigue and the presence of large vacuoles containing characteristic inclusions resulting from the aggregation of sarcoplasmic reticulum (SR) proteins. The mutation affects a conserved aspartic acid in position 244 (p.Asp244Gly) located in one of … [Read more]

Synaptotagmin 2 is a synaptic vesicle protein that functions as a calcium sensor for neurotransmission but has not been previously associated with human disease. Via whole-exome sequencing, heterozygous missense mutations in the C2B calcium-binding domain of the gene encoding Synaptotagmin 2 were identified in two multigenerational families presenting with peripheral motor neuron syndromes. An essential … [Read more]

In this study, the authors aimed to determine the incidence and prevalence of facioscapulohumeral muscular dystrophy (FSHD) in the Netherlands. They used 3-source capture-recapture methodology, to estimate the total yearly number of newly found symptomatic individuals with FSHD, including those not registered in any of the 3 sources. To this end, symptomatic individuals with FSHD … [Read more]

This study examined the relationship between delay in the age of first independent walking and cognitive impairment in boys with Duchenne muscular dystrophy (DMD) to assess how age of diagnosis might be improved. The records of 179 boys with DMD evaluated by the senior author between 1989 and June 2012 were reviewed. Delay in walking … [Read more]

In this study, the authors characterized the phenotype of patients with distal myopathy with vocal cord and pharyngeal weakness (VCPDM) due to the p.S85C mutation in the Matrin 3 gene (MATR3, MIM 164015). Recently it has been suggested that patients with this mutation may suffer from familial amyotrophic lateral sclerosis. Sixteen patients from six families … [Read more]