Blog Archives
Antititin antibody in early- and late-onset myasthenia gravis
Myasthenia gravis (MG) is an autoimmune disease caused by antibodies against neuromuscular junction proteins, 85% of patients have antibodies against acetylcholine receptor (AChR-MG). Antititin antibodies are present in a subset of patients with MG. This study aimed to determine the value of antititin antibodies as severity markers and thymoma predictors in early- and late-onset MG. … [Read more]
Exon skipping restores dystrophin expression, but fails to prevent disease progression at advanced stage
Antisense therapy with both chemistries of phosphorodiamidate morpholino oligomers (PMOs) and 2′-O-methyl phosphorothioate has demonstrated the capability to induce dystrophin expression in Duchenne muscular dystrophy (DMD) patients in phase II-III clinical trials with benefit in muscle functions. However, potential of the therapy for DMD at different stages of the disease progression is not understood. This … [Read more]
Use of the Motor Function Measure in congenital muscle disorders
To monitor treatment effects in patients with congenital myopathies and congenital muscular dystrophies, valid outcome measures are necessary. In this observational study based on data previously collected from several cohorts, the Motor Function Measure (MFM) was examined for robustness and changes are proposed for better adequacy. A total of 289 patients aged 5 to 77 … [Read more]
Restoring cellular function in Ullrich Congenital Muscular Dystrophy fibroblasts
Ullrich congenital muscular dystrophy (UCMD) is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal joint contractures. Sporadic and recessive mutations in the three collagen VI genes, COL6A1, COL6A2, and COL6A3, are reported to be causative. In the sporadic forms, a heterozygous point mutation causing glycine substitution in the triple … [Read more]
Pericytes derived from adipose tissue increase the life span of DMD mice
Duchenne muscular dystrophy (DMD) is still an untreatable lethal X-linked disorder affecting1 in 3500 male births. It is caused by the absence of muscle dystrophin due to mutations in the dystrophin gene. The potential regenerative capacity as well as immune privileged properties of mesenchymal Stem Cells (MSC) has been under investigation for many years in … [Read more]
Evaluation and construction of diagnostic criteria for inclusion body myositis
The objective of this study was to use patient data to evaluate and construct diagnostic criteria for inclusion body myositis (IBM), a progressive disease of skeletal muscle. The literature was reviewed to identify all previously proposed IBM diagnostic criteria. These criteria were applied through medical records review to 200 patients diagnosed as having IBM and … [Read more]
I-Motion : A centre for pediatric clinical trials
As part of its strategic plan AFM 2017, the AFM-Telethon wanted to create a centre for clinical research and support for children in order to facilitate the implementation of clinical trials in young patients with neuromuscular diseases. Last November, the I-Motion project was launched at the Trousseau Hospital in Paris. At this clinical research and … [Read more]
The 17th Summer School of Myology
The 17th Summer School of the Institute of Myology was held from June 10 to 18. This edition hosted 51 students from 23 countries: USA, Canada, Mexico, Brazil, Argentina, France, England, Portugal, Italy, Russia, China, Switzerland, Belgium, Burkina-Faso, Romania, Iran, Spain, The Netherlands , Denmark, and 4 new countries, Kazakhstan, Pakistan, Sri Lanka and Norway. … [Read more]
POMK mutations lead to diverse clinical presentations
Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its function lead to dystroglycanopathies, a group of congenital muscular dystrophies showing extreme genetic and clinical heterogeneity. Specific glycans bound to the extracellular portion dystroglycan, α-dystroglycan, mediate ECM interactions and most known … [Read more]
Affinity proteomics to identify biomarkers in rare diseases
Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. In this paper, the authors addressed this challenge by combining … [Read more]
