Myology research highlights

In this study, genome-wide homozygosity mapping was used to map a novel myopathic phenotype to chromosomal region 1q25 in a consanguineous family: three individuals manifesting proximal and distal weakness and atrophy were affected, with rigid spine and contractures of the proximal and distal interphalangeal hand joints. Additionally, cardiomyopathy and respiratory involvement were noted. DNA sequencing … [Read more]

Diagnosis of muscular dystrophies is currently based on invasive methods requiring muscle biopsies or blood tests. The aim of the present study was to identify urinary biomarkers as a diagnostic tool for muscular dystrophies. Here, the urinary proteomes of Duchenne muscular dystrophy (DMD) patients and healthy donors were compared with a bottom-up proteomic approach. Label-free … [Read more]

Array Comparative Genomic Hybridization (aCGH) has progressively replaced conventional karyotype in the diagnostic strategy of intellectual disability (ID) and congenital malformations. This technique increases the diagnostic rate but also the possibility of finding unexpected variants unrelated to the indication of referral, namely incidental findings. The incidental finding of CNVs located in X-linked genes in girls … [Read more]

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with increased gene dosage for PMP22. Therapeutic approaches are currently aiming at correcting PMP22 over-expression. It is unknown whether PMP22 can be used as a biological marker of disease progression and therapy efficacy. In this study, the authors performed quantitative real-time polymerase chain reaction on skin biopsies of … [Read more]

Spinal muscular atrophy (SMA) is characterised by loss of motor neurons in the spinal cord that results in muscle denervation and profound weakness in affected patients. Here, the authors sought evidence for primary muscle involvement in the disease during human development by analyzing the expression of several muscle cytoskeletal components (i.e. slow, fast, and developmental … [Read more]

This study aimed to characterise the clinical and genetic features of spinal bulbar muscular atrophy (SBMA), a rare neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene, in the United Kingdom. The authors created a national register for SBMA in the United Kingdom and recruited … [Read more]

In a May 13, 2014, webcast, Sarepta Therapeutics summarized its plans for eteplirsen and other experimental exon-skipping compounds it has in development to treat Duchenne muscular dystrophy; eteplirsen targets exon 51 of the dystrophin gene and could provide a treatment for 13% of the DMD population. Sarepta will apply to the U.S. Food and Drug … [Read more]

Reversing an earlier negative opinion, the European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) gave a qualified endorsement this week to marketing of ataluren (Translarna, PTC Therapeutics) to treat Duchenne muscular dystrophy (DMD). In the drug’s phase IIb and phase III trials, boys with DMD failed to show statistically significant improvements … [Read more]

Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were observed in the large majority of AD-CCD families; however, this gene was excluded … [Read more]

Myotonic dystrophy (DM) is the most common form of muscular dystrophy in adults. There are conflicting reports about its effect on female fertility. This study investigated ovarian reserve and IVF-preimplantation genetic diagnosis (PGD) outcome in women with DM1. A total of 21 women undergoing PGD for DM1 were compared with 21 age- and body mass … [Read more]