Blog Archives
Skeletal muscle water T2 as a biomarker of disease status in DMD
The purpose of this study was to examine exercise effects on muscle water T2 in patients with Duchenne muscular dystrophy (DMD). In 12 DMD subjects and 19 controls, lower leg muscle fat (%) was measured by Dixon and muscle water T2 and R2 (1/T2) by the tri-exponential model. Muscle water R2 was measured again … [Read more]
Expanding the myopathological spectrum of calpainopathies
Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characteriSed by frequent lobulated fibres. More recently calpain mutations have been shown in association with eosinophilic myositis, suggesting that calpain mutations may render muscle susceptible to inflammatory change. This article presents the case of a 33-year old female with mild … [Read more]
September 2017: Myology to be taught in the 3rd year of the Bachelor’s degree in Sciences for Health
A Myology teaching unit, coordinated by Professor C. Chanoine, will be launched in September at the Université Paris Descartes (Paris V) in the 3rd year the Bachelor’s degree in Sciences for Health. It will bring together experts in skeletal muscle from the Institute of Myology and the Faculty of Basic and Biomedical Sciences (F. Charbonnier, … [Read more]
test
test page
A novel mechanism of cell migration linked to clathrin/AP-2 tubes
Stéphane Vassilopoulos (INSERM Researcher at the Myology Research Center at the Institute of Myology) participated in the discovery of a novel mechanism of cell migration. In collaboration with researchers from the Gustave Roussy Institute and the Institut Curie, he has demonstrated a new mode of adhesion and movement of the cell in a three-dimensional collagen … [Read more]
The Summer School of Myology: 20 years later!
Created 20 years ago to train physicians worldwide about the latest scientific and medical advances in neuromuscular diseases, the 20th edition of the Summer School of Myology has just terminated. In 1998, the Institute of Myology was inspired by the concept of summer schools, very popular in the Anglo-Saxon academic world, and founded the Summer … [Read more]
Expanding the list of phenotypes associated with defects in genes encoding alpha-laminins
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. Here, the authors report a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The … [Read more]
Repression of phosphatidylinositol transfer protein α improves the pathology of DMD
Although there are several promising strategies under investigation to restore dystrophin protein expression, there is currently no cure for Duchenne muscular dystrophy (DMD), and identification of genetic modifiers as potential targets represents an alternative therapeutic strategy. In a Brazilian golden retriever muscular dystrophy (GRMD) dog colony, two related dogs demonstrated strikingly mild dystrophic phenotypes compared … [Read more]
Urinary amino terminal titin fragments: a potential biomarker for DMD?
Enzyme-linked and electrochemiluminescence immunoassays were developed for quantification of amino (N-) terminal fragments of the skeletal muscle protein titin (N-ter titin) and qualified for use in detection of urinary N-ter titin excretion. Urine from normal subjects contained a small but measurable level of N-ter titin (1.0 ± 0.4 ng/ml). A 365-fold increase (365.4 ± 65.0, P = 0.0001) in urinary N-ter titin … [Read more]
Bridging the Gap: An Osteopathic Primary Care-Centered Approach to Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a deadly and incurable disease typically diagnosed in early childhood. Presently, the delay between a caregiver’s initial concern and the primary care physician obtaining creatine kinase levels-the most important screening test-is more than a year. It is imperative to diagnose DMD as soon as possible because early treatment has the … [Read more]
