Our science & medical news
RSS feedA rare form of myosinopathy now better understood
Researchers at the Institute of Myology* compiled clinical and genetic data from 13 patients who were found to have pathologic variants of the MYH2 gene: all presented with symptoms suggestive of slowly progressive myopathy, with variable age of onset, generally later than in cases already described in the literature; the patients were mainly from France, … [Read more]
The utility of the national Pompe disease registry in understanding causes of death and comorbidities
The French Pompe disease registry, which includes 200 patients, is an unrivalled source of clinical and biological data that provides a better understanding of the characteristics and progression of this disease: researchers, including clinicians from the Institute of Myology, analysed this data on a sample of 60 patients with late-onset Pompe disease (LOPD) who had … [Read more]
A comparative analysis of long-read sequencing techniques in two neuromuscular diseases
In collaboration with their Japanese colleagues, researchers from the Myology Institute* compared the diagnostic use of new sequencing technologies in the context of a growing number of genetic diseases involving nucleotide expansions: first-generation NGS (next-generation sequencing) is unable to measure these pathological expansions, particularly in patients with myotonic dystrophy type 1 (DM1) or oculopharyngeal-distal muscular … [Read more]
Pierre Klein awarded the Impulsion Award at the 2025 JSFM
Pierre Klein is a senior postdoctoral researcher at the Centre of Research in Myology in the Repeat Expansions & Myotonic Dystrophy (REDs) team led by Denis Furling. At the 22nd Conference of the French Society of Myology (FSM), held from 19 to 21 November 2025 in Aix-les-Bains, he was awarded the “Impulsion Prize”, which supports postdoctoral … [Read more]
Looking back at 2025 SFM Annual Meeting
Nearly 400 participants gathered at the 2025 French Society of Myology Conference (JSFM), which took place from 19 to 21 November 2025 in Aix-Les-Bains. Focus on muscle imaging During the conference, imaging was in the spotlight and various imaging techniques were presented, demonstrating its importance both in the upstream diagnostic process and in the monitoring … [Read more]
The lysosome, a potential therapeutic target in DMD
Researchers from the Institute of Myology and Généthon report pioneering work in the treatment of Duchenne muscular dystrophy (DMD): they started from the observation that the muscle fibres of DMD patients and their murine counterparts showed lysosomal abnormalities, which are also accompanied by overexpression of Galectin-3, a key protein in lysosomal function. By using trehalose, … [Read more]
Valentin Henriet awarded the ‘Best Technical Poster’ prize at the MYO-MRI+ 2025 conference
Valentin Henriet is a PhD student in the Nuclear Magnetic Resonance (NMR) Imaging and Spectroscopy Laboratory. The poster entitled ‘Creatine-CEST-based pH mapping in healthy volunteer leg muscles’ that he presented at the MYO-MRI+* conference was awarded the ‘Best Technical Poster’ prize. Interview. In what context did you carry out the work presented in this poster? … [Read more]
The Institute is developing an app using AI to assess motor function
Romain Feigean is a researcher at the Neuromuscular Physiology and Evaluation Laboratory headed by Jean-Yves Hogrel at the Institute’s NIC. He is particularly involved in assessing motor function, and more specifically walking, a project for which he has been awarded a grant from the Rare Diseases Foundation*. Interview How will you be working on gait … [Read more]
A mitochondrial gene responsible for exercise intolerance and rhabdomyolysis
Myologists from the Institut de Myologie (clinicians from the Service of Neuro-Myology and researchers from the CRM and the Morphology Unit) and the Cochin Hospital in the Paris region report the clinical, histological and molecular data of a patient in whom a variant was identified in the XPNPEP3 gene: this mitochondrial gene of nuclear origin … [Read more]
A strategy to effectively prevent sudden cardiac death in DM1
In order to prevent sudden cardiac death in patients with DM1, cardiologists recommend the implantation of a pacemaker in asymptomatic patients with specific abnormalities detectable by electrocardiogram (ECG) or electrophysiological study (EPS). In order to determine which strategy, based on ECG or EPS, is most effective in predicting major bradyarrhythmic events (MBAE) in patients, French … [Read more]
