Our science & medical news
RSS feedThe 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]
Researchers from the institute attending the MYO-MRI+ conference
The 5th International Imaging in Neuromuscular Disease Conference organised by the MYO-MRI+ consortium will be held in Berlin, Germany, from 9 to 11 November 2025. This conference aims to promote exchanges between radiologists, neurologists, biologists, physicists, engineers and other scientists involved in neuromuscular imaging, with a particular but not exclusive focus on MRI and spectroscopy. … [Read more]
Case report of DNAJB4-related myopathy in France
Myologists from the Paris region, including an expert from the Institute, report the case of a patient with an ultra-rare myopathy: the clinical picture combined a predominantly distal motor deficit in the upper limbs with acute respiratory failure. In addition to CPK levels more than ten times higher than normal, the forced vital capacity at … [Read more]
Three case reports suggest the efficacy of eculizumab in dermatomyositis and myasthenic crisis
Already indicated for refractory forms of myasthenia gravis, eculizumab (Soliris®) has been shown to be effective in two other indications: French clinicians, including experts from the Institute, achieved complete and rapid remission in two patients with dermatomyositis when eculizumab was administered in addition to immunosuppressive therapies. The two young women did not relapse after four … [Read more]
Immunomodulatory mesenchymal cells useful in myasthenia gravis
A group of researchers coordinated by the Institute of Myology has focused on a small contingent of cells and their potential use in the treatment of myasthenia gravis (MG): these stromal cells derive from the mesenchyme and play a role in regulating immunomodulation when they are brought into contact with mononuclear blood cells, several functional … [Read more]
Mitochondrial abnormalities, a possible marker of unfavourable progression in inflammatory myopathies
The presence of mitochondrial abnormalities is now a criterion for the diagnosis of sporadic inclusion myositis. It is also a predictive marker of progression in other forms of inflammatory myopathies, according to a multicentre study involving researchers from the Institute of Myology (Paris): among 850 patients with myositis, 25 had COX-negative fibres (rate of 0.25 … [Read more]
