Our science & medical news
RSS feedDescription of a French cohort of patients with caveolinopathy
A group of French clinicians and geneticists, including experts from the Institute of Myology, are reporting the clinical and biological data from a large cohort of patients diagnosed with CAV3-related myopathy. twenty-three patients from 16 different families were included in the study, the average follow-up was 24 years, exercise intolerance was the most common symptom, … [Read more]
Bruno Cadot wins the Tremplin ASEAN prize awarded by the French Ministry of Higher Education and Research and the French Academy of Sciences
Bruno Cadot, a researcher in the “Physiopathology & therapy of autosomal dominant centronuclear myopathy” team led by Marc Bitoun at the Myology Research Centre, has just been awarded the Tremplin ASEAN prize by the French Ministry of Higher Education and Research and the French Academy of Sciences. This prize rewards existing cooperation between two teams, … [Read more]
DM1: a promising new approach to gene therapy
Myotonic dystrophy type 1 (DM1), also known as Steinert disease, is a neuromuscular disorder. This rare genetic disorder affects around one in 8,000 people, making it the most common muscular disease in adults. DM1 is characterised by multi-systemic symptoms, particularly in skeletal muscles (progressive weakness and atrophy, myotonia), cardiac muscle (conduction disorders) and the central … [Read more]
Researchers from the Instituteâs NMR laboratory at the ISMRM 2023 conference
Several members of the NMR Laboratory presented the team’s work at the annual ISMRM (International Society for Magnetic Resonance in Medicine) conference, held in Toronto from June 3 to 8, 2023. Communications ElĂ©onore Vermeulen : Quantification of muscle fat fraction and water T2 via RF phase-modulated 3D gradient-echo imaging Constantin Slioussarenko : A steady-state MRF … [Read more]
International guidelines for VCP myopathies
Mutations in the VCP gene encoding valosin-containing protein cause complex neurodegenerative clinical pictures almost invariably associated with myopathy. An international consortium of experts, two of whom belong to the Institut de Myologie in Paris, has drawn up recommendations for this myopathy, which remains rare: A preliminary analysis of the literature was carried out and distributed … [Read more]
Description of the first Franco-Swiss cohort in SORD-related peripheral neuropathy
Defects in the SORD gene lead to hereditary distal motor neuropathy (dHMN type) or distal sensory-motor neuropathy (Charco-Marie-Tooth type). Discovered in 2020, there are still few cohorts of patients described in the literature. Experts from the FILNEMUS network, in association with their Swiss colleagues, published a cohort of 30 patients in March 2023: These patients … [Read more]
Introduction to research in myology at the Institute for SU medical students – Interview with Guillaume Bassez
The Institute welcomed its first class of medical students for an introduction to research in the field of myology in April 2023. This week of training, which is part of the medical curriculum at Sorbonne University, was organised by Guillaume Bassez, neurologist and head of a research group in the Repeat Expansions & Myotonic Dystrophy … [Read more]
A look back at the 4th International Meeting on Laminopathies
The 4th International Meeting on Laminopathies, held in Madrid from 9 to 12 May 2023, brought together researchers and physicians interested in these rare diseases, representatives of the pharmaceutical industry, as well as laminopathy patients and patient organisations from around the world. The meeting welcomed 166 participants from 24 countries. By providing a forum for … [Read more]
Anti-SAE autoantibodies in dermatomyositis
Dermatomyositis (DM) is a rare autoimmune family of diseases in which the muscles and skin are affected by inflammation. They can occur in childhood or in adults. The autoimmune aspect of these diseases is associated in 60% of patients with the presence of DM-specific antibodies, among which the anti-SAE antibody is rare. In a retrospective … [Read more]
Role of caveolae in T-tubule formation in the muscle cell – Interview with Eline Lemerle and StĂ©phane Vassilopoulos
Eline Lemerle completed her thesis* under the supervision of StĂ©phane Vassilopoulos, in Marc Bitoun’s team (Muscle Organization & Therapy of Dominant Centronuclear Myopathy) at the Institute’s Myology Centre for Research. Her work on the formation of T-tubules in the muscle cell and more specifically on the role of caveolae, has just been published in the … [Read more]
