Myology research highlights

Here, the suthors describe the development of an accurate and affordable test for the non-invasive prenatal diagnosis (NIPD) of Duchenne and Becker muscular dystrophies (DMD/BMD). Cell-free DNA (cfDNA) was extracted from maternal blood and prepared for massively parallel sequencing (MPS) on an Illumina MiSeq by targeted capture enrichment of SNPs across the dystrophin gene on … [Read more]

Limb girdle muscular dystrophies (LGMD) are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function leading to impaired handling of misfolded proteins which normally would be degraded. In order to facilitate diagnostic accuracy, the authors clarified muscle … [Read more]

This paper provides a summary of the 2005 American Academy of Neurology (AAN) guideline update, “Corticosteroid treatment of Duchenne muscular dystrophy.” With the current variations in practice in corticosteroid use, the following questions regarding patients with DMD were addressed: What is the efficacy of corticosteroids, specifically their effect on survival, quality of life (QoL), motor … [Read more]

Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients with Roma origin, the authors found … [Read more]

Defects in mRNA 3′ end formation have been described to alter transcription termination, transport of the mRNA from the nucleus to the cytoplasm, stability of the mRNA and translation efficiency. Therefore, inhibition of polyadenylation may lead to gene silencing. Herein, Facioscapulohumeral Dystrophy (FSHD) was used as a model to determine whether or not targeting key … [Read more]

Late-onset Pompe disease (LOPD) is a rare treatable lysosomal storage disorder characterized by progressive lysosomal glycogen accumulation and muscle weakness, with often a limb-girdle pattern. Despite published guidelines, testing for LOPD is often overlooked or delayed in adults, owing to its low frequency compared to other muscle disorders with similar muscle patterns. Next-generation sequencing (NGS) … [Read more]

The auhors have previously performed a systematic review of worldwide population-based studies on Duchenne and Becker muscular dystrophies; the current study focused on the epidemiology of other muscular dystrophies using Medline and EMBASE databases. Two reviewers independently reviewed a total of 1104 abstracts and 167 full-text articles from 1985 to 2011. Pooling of prevalence estimates … [Read more]

The CRISPR/Cas9 system is a great revolution in biology. This technology allows the modification of genes in vitro and in vivo in a wide variety of living organisms. In most Duchenne muscular dystrophy (DMD) patients, expression of dystrophin (DYS) protein is disrupted because exon deletions result in a frame shift. This study describes CRISPR-induced deletion … [Read more]

Autologous stem cells that have been genetically modified to express dystrophin are a possible means of treating Duchenne Muscular Dystrophy (DMD). To maximize the therapeutic effect, dystrophin construct needs to contain as many functional motifs as possible, within the packaging capacity of the viral vector. Existing dystrophin constructs used for transduction of muscle stem cells … [Read more]

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy and is a genetically and clinically heterogeneous disorder. Here, the authors examined a Korean family in which two individuals had an autosomal dominant axonal CMT with early onset, sensory ataxia, tremor, and slow disease progression. Pedigree analysis and exome sequencing identified a de novo missense … [Read more]