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2414 news items
Research
A rare form of myosinopathy now better understood
On 27/01/2026
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:…
Research
A comprehensive study of a series of patients with SLONM
On 26/01/2026
Italian clinicians analysed the clinical and biological data from a large series of cases of sporadic late-onset nemaline myopathy (SLONM): they added their own cases…
Research
The utility of the national Pompe disease registry in understanding causes of death and comorbidities
On 26/01/2026
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…
Research
A comparative analysis of long-read sequencing techniques in two neuromuscular diseases
On 22/01/2026
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…
Events
M&M’s – Muscle Monday Seminar – 26 Jan. – Dr Metodi Metodiev (France)
On 21/01/2026
Mitochondrial diseases: pathogenesis and cure 26 January 2026 from noon to 1pm (Paris time) Dr Metodi METODIEV (Institut Imagine, Paris) Invited by Marc Bitoun More information on the…
Research
A first step towards the possibility of administering gene therapy in subjects already immune to AAV
On 21/01/2026
American researchers in Indiana have studied ways to overcome the obstacle posed by the presence of neutralising antibodies in patients who need to undergo viral…
Research
Is methylprednisolone effective in treating cognitive impairment in DMD?
On 20/01/2026
Chinese researchers studied the potentially positive effects of intraperitoneal corticosteroid injection in a mouse model of Duchenne muscular dystrophy (DMD): the working hypothesis was that…
Research
Cardiac complications observed in rats treated with microdystrophin
On 19/01/2026
French researchers, in collaboration with the Généthon laboratory, report the results of a study conducted on rats with Duchenne muscular dystrophy (DMD) treated with microdystrophin…
Patient care
A new protocol for treatment with high-dose nusinersen arrives in Europe
On 16/01/2026
While nusinersen is currently administered at a dose of 12 mg intrathecally, a new treatment device with higher doses (50 mg and 28 mg) has…
Research
The French model for multidisciplinary team meetings in SMA
On 14/01/2026
With the arrival of three innovative treatments (Spinraza, Zolgensma and Evrysdi), multidisciplinary team meetings (MTM) were set up in France in 2017 and then rolled…
Research
DMD: dystrophin deficiency also affects vascular cells
On 13/01/2026
While vascular damage is suspected in Duchenne muscular dystrophy (DMD), recent studies show that dystrophin deficiency alters the plasticity of vascular smooth muscle cells. These…
Research
A French study sheds light on the progression of CMT 4C
On 12/01/2026
Conducted over 20 years (2003–2023), this study involved 103 patients with Charcot-Marie-Tooth disease linked to the SH3TC2 gene (CMT 4C) who were monitored in 27…
Research
GC101 gene therapy shows encouraging results in type II and III SMA in nine patients
On 09/01/2026
While Zolgensma gene therapy is only indicated for children weighing less than 21 kg with type I SMN1-related proximal spinal muscular atrophy (SMA) or who…
Research
Promising results from a CAR-T cell trial in refractory myasthenia gravis
On 08/01/2026
Following the publication of initial success in 2024, a Chinese team has published the results of a multicentre phase I trial that evaluated three different…
Events
Together, Stronger in 2026!
On 07/01/2026
The year 2025 marked a major turning point for our project to create the world’s first foundation dedicated to muscle, the Myology Foundation. This milestone was symbolized…
Patient care
A thymectomy before the generalisation of myasthenia would be preferable in certain patients
On 07/01/2026
While there is still no consensus on the treatment of ocular myasthenia gravis, an Italian team conducted a retrospective study of 174 patients initially diagnosed…
Research
CMT: a promising European conference
On 05/01/2026
Charcot-Marie-Tooth disease (CMT) was the focus of the second edition of a European congress held in Antwerp on 23, 24 and 25 October 2025, bringing…
Research
International recommendations for FOP
On 19/12/2025
The 21 members of the International Clinical Council on FOP (ICCFOP) and seven consultants from 15 countries, including France, have published: a summary of current…
Research
Limited interest in measuring CMAP in adults with SMA
On 18/12/2025
German clinicians report the results of a multicentre observational study evaluating adults with SMA receiving nusinersen treatment: 78 patients, including 51 non-ambulatory patients, participated in…
Research
Allele-specific gene silencing by RNA interference: a robust, safe and effective treatment for dominant hereditary diseases
On 17/12/2025
Allele-specific gene silencing by RNA interference is a promising therapeutic approach for dominant hereditary diseases. This strategy is based on the targeted inhibition of messenger…