Blog Archives
Development and validation of the Myasthenia Gravis Impairment Index
This study aimed to develop a measure of myasthenia gravis impairment using a previously developed framework and to evaluate reliability and validity, specifically face, content, and construct validity. The first draft of the Myasthenia Gravis Impairment Index (MGII) included examination items from available measures enriched with newly developed, patient-reported items, modified after patient input. International … [Read more]
Antisense morpholino oligonucleotides technology is a potential therapeutic option for FSHD
Derepression of DUX4 in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here, the authors describe a proof-of-concept study of the therapeutic potential of antisense phosphorodiamidate morpholino oligonucleotides (PMOs) for the treatment of FSHD, by targeting DUX4 and demonstrating efficacy in both FSHD myogenic cells and human muscle … [Read more]
Expanding the phenotypic spectrum of caveolinopathies
Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases. Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy and isolated hyperCKemia. Here, the authors present a … [Read more]
Alterations of tendon ECM in Ullrich CMD
Collagen VI (COLVI) is a non-fibrillar collagen expressed in skeletal muscle and most connective tissues. Mutations in COLVI genes cause two major clinical forms, Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). In addition to congenital muscle weakness, patients affected by COLVI myopathies show axial and proximal joint contractures and distal joint hypermobility, which suggest … [Read more]
MicroRNAs as potential noninvasive biomarkers in SMA
The identification of noninvasive biomarkers to monitor the disease progression in spinal muscular atrophy (SMA) is becoming increasingly important. MicroRNAs (miRNAs) regulate gene expression and are implicated in the pathogenesis of neuromuscular diseases, including motor neuron degeneration. In this study, the authors selectively characterized the expression of miR-9, miR-206, and miR-132 in spinal cord, skeletal … [Read more]
Identification of 7 target genes as potential SMA targets using integrative transcriptomic analysis
Spinal muscular atrophy (SMA) affects multiple organ systems with varying degrees of severity. Exploration of the molecular pathological changes occurring in different cell types in SMA is crucial for developing new therapies. This study collected 39 human microarray datasets from ArrayExpress and GEO databases to build an integrative transcriptomic analysis for recognizing novel SMA targets. … [Read more]
Antoine Muchir, a researcher from the Institute involved in Telethon 2016
Antoine Muchir works at the Myology Centre for Research in Gisele Bonne’s team and will represent the Institute of Myology during the event. You will be actively involved in the next Telethon, have you ever participated to this event ? I have been involved in the Telethon for the past couple of decades. During my … [Read more]
Summer School of Myology 2016
The 19th Summer School of Myology took place at the Institue of Myology from 23rd June to 1st July. Fifty three students completed courses, nearly as much as our record numbers last year. Amongst some 26 nationalities represented, a majority of Latin people : 3 comme from Brazil, 4 from Argentina, 2 from Mexico, 2 … [Read more]
Classifying trajectories of ambulatory function in DMD patients
High variability in patients’ changes in 6-minute walk distance (6MWD) over time has complicated clinical trials of treatment efficacy in Duchenne muscular dystrophy (DMD). To objectively characterise the natural history of 6MWD in DMD, the present study sought to classify patients based on their trajectories of ambulatory function over time. Ambulatory boys aged 5 … [Read more]
ActRIIB blockade: a potential treatment approach to reverse dystrophic muscle degeneration?
Postnatal blockade of the activin type IIB receptor (ActRIIB) represents a promising therapeutic strategy for counteracting dystrophic muscle wasting. However, its impact on muscle function and bioenergetics remains poorly documented in physiologic conditions. This study investigated totally noninvasively the effect of 8-wk administration of either soluble ActRIIB signaling inhibitor (sActRIIB-Fc) or vehicle PBS (control) … [Read more]
