Our science & medical news
RSS feedNew TMP3 variant: the phenotypic range of TMP3-related congenital myopathy expands
Mutations in the tropomyosin 3 (TPM3) gene are associated with autosomal dominant and recessive nemaline 1 (NEM1) myopathy, congenital myopathy with disproportionate muscle fibre types and cap myopathy. This French-Chilean study reports the case of a 47-year-old man with polycythemia, restricted vital capacity and mild apnea/hypopnea syndrome, requiring non-invasive ventilation. Various additional examinations were … [Read more]
Muscle regeneration affects AAV vector transcription
As part of the research on the molecular mechanisms that impact AAV vector expression in pathological muscle, the group of Sofia Benkhelifa-Ziyyat (research project leader/AIM) and Stéphanie Lorain (currently project leader/AFM) from the Institute’s Myology Centre for Research evaluated the impact of the necrosis-regeneration process on AAV vector expression efficiency in Duchenne muscle. This study … [Read more]
The REDs team gathered for the IDMC-13 conference
The 13th International Myotonic Dystrophy Consortium Congress (IDMC-13) took place from 22 to 25 June 2022. It should have been held both on-site in Osaka, Japan, and online, but the health situation led the organisers to opt for a digital-only version. The members of the Repeat Expansions & Myotonic Dystrophy (REDs) team therefore followed and … [Read more]
Identification of a new communication pathway in the neuromuscular junction – Interview with Laure Strochlic
A study conducted by the “Neuromuscular connectivity in health and pathologies” team led by Laure Strochlic and Bertrand Fontaine at the Institute’s Myology Centre for Research has just been published in Science Signaling*. This work demonstrates the existence of a new communication pathway in the neuromuscular junction that is active both during embryogenesis and at … [Read more]
ERN EURO-NMD webinar, June 16th: Prof. Dr. Stravos Kiliaridis, PhD (Switzerland)
Jaw malformations and teeth malpositions in Neuromuscular Disease Thursday June 16th, 2022 – 16:00-17:00 (Paris time) Prof. Dr. Stravos Kiliaridis, PhD (University of Geneva & University of Bern, Switzerland) Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN.
The institute was present at the 14th MGFA International Conference on Myasthenia and Related Disorders
The 14th International Conference on Myasthenia Gravis and Related Disorders organised by the Myasthenia Gravis Foundation of America (MGFA) took place from 10 to 12 May 2022 in Miami, USA. It brought together the best experts in myasthenia, including the researchers of team 7 “Myasthenia Gravis: Etiology, Physiopathology & Therapeutical Approaches” of the Institute’s Myology … [Read more]
Researchers from the Institute’s NMR laboratory at the ISMRM 2022 conference
The 31st ISMRM (International Society for Magnetic Resonance in Medicine) congress was held in London from 7 to 12 May 2022. Researchers from the NMR Imaging and Spectroscopy Laboratory were able to present their results during several sessions, via digital posters and an oral presentation: Benjamin Marty : Assessment of skeletal muscle extracellular volume fraction … [Read more]
Endothelin: a new player in muscle fibrosis – Interview with Capucine Trollet
Mona Bensalah completed her thesis under the supervision of Elisa Negroni and Vincent Mouly in the team “Cellular and molecular orchestration in muscle regeneration, during aging and in pathologies” directed by Capucine Trollet and Vincent Mouly, at the Institute’s Myology Research Centre. Her work, completed by that of Laura Muraine, has just been published in … [Read more]
ERN EURO-NMD webinar, May 12th: Pr Michelangelo Mancuso (Italy)
Primary Mitochondrial Myopathies Thursday May 12th, 2022 – 16:00-17:00 (Paris time) Prof. Michelangelo Mancuso (Neurologist at the Neurological Clinic of Cisanello Hospital and Associate Professor of Neurology at the University of Pisa, Italy) Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN.
3-year study of lower limb muscles in patients with dysferlinopathy using MRI and 31P NMR spectroscopy
Studies of the natural history of neuromuscular diseases are essential to understand the evolution of the diseases and to find relevant evaluation criteria. Dysferlinopathy is a neuromuscular disease characterized by an active inflammatory and degenerative process ultimately leading to muscle fiber necrosis and replacement of muscle by fibrous and fatty tissue. An international team involving … [Read more]
