Blog Archives
Release of the 70th newsletter from the Institute
Welcome to the 70th issue of our newsletter! On December 7th, Telethon 2018 will begin and will be diffused on France 2. This Telethon will be marked by many victories including the first gene therapy results for neuromuscular diseases. Children who have not been able to move, sit up, raise their arms or catch … [Read more]
Institute seminar – December 10th – Erika Brunet, PhD (France)
Chromosomal translocations induced by CRISPR/Cas9: from molecular mechanisms to oncogenesis Monday 10 December 2018 – 12:00-13:00 Erika Brunet, PhD (Institut Imagine, INSERM UMR1163, Dynamics of the genome and Immune System, Hôpital Necker-Enfants malades, Paris, France) Host : Capucine Trollet Auditorium E Institute of Myology Hôpital de la Pitié-Salpêtrière 105 boulevard de l’hôpital metro St Marcel
Live from the Summer School of Myology…
The Head of the Summer School of Myology, J. Andoni URTIZBEREA, let us know of two important news: The 22nd edition of the School will take place at the Institut de Myologie of Paris next June (17-22). It is now possible to register by consulting the dedicated webpage. On another note, we wish to remind … [Read more]
Histopathological patterns and structural alterations in titin-related myopathies
Titin-related myopathies are heterogeneous clinical conditions associated with mutations in TTN. To define their histopathologic boundaries and try to overcome the difficulty in assessing the pathogenic role of TTN variants, the authors of the present study performed a thorough morphological skeletal muscle analysis including light and electron microscopy in 23 patients with different clinical phenotypes … [Read more]
Strength training in McArdle Disease
McArdle disease is a metabolic myopathy mainly characterised by symptom onset during physical activities or isometric muscle contraction. Resistance (also termed strength) training is a type of physical exercise focusing on the use of resistance (e.g., lifting weights) to induce muscular contraction, which builds muscle mass and strength. Historically people with McArdle disease were advised … [Read more]
Redefined priorities for the CRM – An interview with Pr. Bertrand Fontaine
The Center of Research in Myology (CRM) is a center of excellence for research on muscle and its pathologies. It is part of the Institute of Myology which also has six other distinct and complementary poles*, and which constitutes a beneficial ecosystem favoring interactions and the emergence of innovative projects. “We are in a supportive … [Read more]
University degree in genetic diseases – a multidisciplinary approach – An interview with A. Herson and M. Frischmann
Ariane Herson and Martine Frischmann are the coordinators of the university degree in genetic diseases – a multidisciplinary approach, led by Professors Alexandra Durr and Marcela Gargiulo. This training course brings together participants from both the hospital sector and medico-social and associative sectors*. The aim of this course is to transmit knowledge about genetics and … [Read more]
Bruno Cadot awarded the “Elsevier Big Prize” at the WMS Congress
Bruno Cadot* received the “Elsevier Big Prize” at the WMS Congress (2-6 October 2018 in Mendoza, Argentina) for his oral presentation on nucleus-cytoskeleton interactions and nuclear positioning during muscle development. For which projects did you receive this award? At this congress, I presented the last ten years of research that I have accomplished at the … [Read more]
Molecular diagnosis of inherited peripheral neuropathies using targeted NGS
Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, the authors compared the diagnostic … [Read more]
Effects of interventions for preventing or treating cardiac complications in dystrophinopathies
The dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X-linked dilated cardiomyopathy (XLDCM). In recent years, co-ordinated multidisciplinary management for these diseases has improved the quality of care, with early corticosteroid use prolonging independent ambulation, and the routine use of non-invasive ventilation significantly increasing survival. The next target to improve outcomes is … [Read more]
