Our science & medical news
RSS feedResearchers from the Institute’s imaging laboratory at the SFRMBM conference
Experts from the Institute’s NMR Laboratory – Spectroscopy Laboratory presented their work at the 7th scientific congress of the Société Française de Résonance Magnétique en Biologie et Médecine (SFRMBM), held in Saint-Malo, France, from 24 to 26 March 2025. Oral communications Monday 24 March • Course – « MR Fingerprinting: Practical Guide » – Benjamin … [Read more]
Two molecules with therapeutic potential identified in LGMD R2
A collaboration involving I-Stem, Genethon and the Institute of Myology carried out a high-throughput screening of 2,239 drugs already approved for other diseases and other bioactive compounds on immortalised myoblast models of limb-girdle muscular dystrophy type R2 (LGMD R2) carrying the L1341P missense mutation in the DYSF gene or in muscle fibres from dysferlin-deficient mice: … [Read more]
Checkpoint inhibitors can induce myositis, but more rarely myasthenia gravis
A French study involving several researchers and clinicians from the Institute of Myology has retrospectively demonstrated the toxic effects of checkpoint inhibitors (ICIs), innovative products widely used in oncology: previous studies had reported cases of induced myasthenia or, more frequently, induced myositis, Using the AP-HP data warehouse, 620 records of patients treated in this way … [Read more]
FSHD combined with genuine myositis: an intriguing association
A French study involving clinicians from the Institute of Myology reports several new and disturbing cases of patients with two co-existing neuromuscular pathologies: firstly, facioscapulohumeral muscular dystrophy (FSHD), proven by molecular biology, and secondly, myositis authenticated by the presence of specific autoantibodies, of the 5 cases of this type identified in the myositis database of … [Read more]
DMD: an effective gene therapy in a severe mouse model of the disease leads to cardiac inflammation
Duchenne muscular dystrophy, a severe and progressive hereditary muscular dystrophy, is caused by mutations in the DMD gene leading to the loss of a protein essential for muscle function, dystrophin. There is currently no effective treatment, but gene therapy trials using micro-dystrophins have been underway for several years. These strategies, targeting both skeletal and cardiac muscle, are applicable to all … [Read more]
Pierre Klein wins prestigious MSCA scholarship for post-doctoral project
Pierre Klein is a senior post-doctoral fellow in the Repeat expansions & Myotonic Dystrophy (REDs) team led by Denis Furling. He is the recipient of a highly prestigious MSCA fellowship from the European Commission for his EpiDM project: ‘Uncovering the role of the m6A epitranscriptome in Myotonic Dystrophy Type 1 (DM1)’. Interview with Pierre Klein. … [Read more]
Chiara D’Ercole, a post-doctoral student at the Institute, is the winner of a prestigious MSCA fellowship
Chiara D’Ercole, a post-doctoral fellow in the Signalling pathways & striated muscles team led by Antoine Muchir, has been awarded the highly prestigious MSCA grant from the European Commission for her GLI-AGE project: Role of glial cells in age-related muscle sarcopenia and NMJ-disfunction. Interview with Chiara D’Ercole. What is your background? I defended my thesis … [Read more]
Two post-doctoral fellows from the Institute awarded prestigious MSCA grant
For the 3rd year running, the European Commission has awarded the highly prestigious Marie Skłodowska-Curie Actions (MSCA) grant to two post-doctoral researchers from the Institute of Myology. Chiara D’Ercole and Pierre Klein applied for and won this highly competitive grant with the support of the Institute’s Grants Office [link]. This highly valued fellowship for young … [Read more]
LGMD and Pompe disease in the NGS era
Next-generation sequencing (NGS) performed between 2017 and 2018 in 2,372 patients from 21 countries with recessive limb-girdle muscle weakness revealed that: 225 had limb-girdle myopathy and 36 had Pompe disease; dysferlinopathy (LGMD-R2) was the most common (26.44%), calpainopathy (LGMD-R1) came second (23.37%), Pompe disease third (13.8%) and sarcoglycanopathy (LGMD-R6) was the rarest (a single case … [Read more]
Late dysferlinopathy presenting as generalized permanent myalgia
The team at the Institute of Myology (Paris) reports the observation of a 52-year-old woman suffering for four years from permanent generalized muscle pain, aggravated by physical activity and associated with joint pain. She also complained of fatigue in the upper limbs, with difficulty holding her arms up. Muscle biopsy revealed a marked decrease in … [Read more]
