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1688 news items
Research
Institute experts at the WMS 2025 Congress
On 12/09/2025
The 30th International Congress of the World Muscle Society (WMS) will be held from 7 to 11 October 2025 in Vienna, Austria. The Institute…
Research
Only part of the D4Z4 region is necessary for epigenetic repression of DUX4
On 12/09/2025
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the abnormal and delayed expression of a transcription factor called DUX4, which has a deleterious effect on adult…
Research
Large deletions of the NEB gene in distal myopathy
On 11/09/2025
An international consortium of researchers, including two French scientists, studied possible correlations between genotype and phenotype in the context of myopathies linked to the NEB…
Research
Towards a better understanding and management of SORD-related neuropathy
On 11/09/2025
Biallelic mutations in the SORD (sorbitol dehydrogenase) gene cause neuropathy that can present as a purely motor form (distal hereditary motor neuropathy, dHMN) or as…
Research
Challenges remain in the design of registries for limb-girdle muscular dystrophies
On 09/09/2025
A study conducted in part by researchers at Henri Mondor Hospital in Paris reports several persistent difficulties in the design and use of registries for…
Research
A broad genotype range for the TNNC2 gene
On 08/09/2025
French researchers report a case of neonatal hypotonia that was found to be related to a pathological sequence variant in the TNNC2 gene encoding type…
Events
7 September: World Duchenne Awareness Day
On 07/09/2025
This year’s World Duchenne Awareness Day theme is ‘Family: At the Heart of Care’. A documentary is available on this theme, following families from around…
Research
Improvement in cardiac and motor function with gene therapy in infantile-onset Pompe disease
On 05/09/2025
Four infants with Pompe disease received an intravenous injection of GC301, a gene therapy that delivers a codon-optimized gene encoding human acid alpha-glucosidase (GAA) carried…
Research
Identification of CaVβ1 isoforms required in the neuromuscular junction development and maintenance
On 04/09/2025
In skeletal muscle, the voltage-gated calcium channel (VGCC) CaV1.1 enables the coupling between the electrical activity of motor neurons and muscle contraction, following stimulation of…
Research
UK recommendations to improve orthopedic care in DMD
On 03/09/2025
A group of British experts has formulated recommendations, approved by the British Society for Children’s Orthopaedic Surgery, aimed at harmonizing and improving orthopedic care for…
Research
A pharmacovigilance study on the use of efgartigimod in myasthenia gravis in the United States
On 03/09/2025
Efgartigimod is one of the new molecules used in refractory forms of myasthenia gravis. Chinese researchers have reviewed the side effects recorded in the Food…
Research
Encouraging results from the ventilatory weaning protocol during myasthenic crises
On 02/09/2025
French clinicians involved in weaning myasthenic patients undergoing decompensation (myasthenic crisis) report the results of the WEAN Safe protocol applied to a single-center cohort (Paris,…
Research
Myotonic dystrophy and increased cancer risk: the American experience
On 01/09/2025
American epidemiologists and statisticians sought to better understand the risk of developing cancer in a population with myotonic dystrophy (MD), primarily Steinert’s disease (type 1…
Research
Research into biomarkers to differentiate Becker and Duchenne muscular dystrophies
On 01/09/2025
Swedish and Dutch researchers used mass spectrometry to try to identify proteomic profiles that would distinguish between the two most common types of dystrophinopathy, namely…
Research
The importance of measuring autoantibodies directed against rituximab in myasthenia gravis
On 29/08/2025
Neurologists in Nice report on their experience in the long-term treatment of autoimmune myasthenia gravis, particularly in the use of a monoclonal anti-CD20 antibody (rituximab…
Research
Reports of muscle lipidosis associated with sertraline and ranozaline
On 29/08/2025
American clinicians report their experience with two drugs, sertraline and ranozaline, which have caused cases of lipidosis-type myopathy: 10 cases of muscular lipidosis were recorded…
Research
First descriptions of cases of congenital myopathy linked to the dystonin gene
On 28/08/2025
An international consortium of researchers including experts from the Institute of Myology reports the identification of a new form of early-onset congenital myopathy linked to…
Research
Conditioned mesenchymal cells to alleviate Myasthenia Gravis
On 28/08/2025
Mesenchymal stromal cells (MSCs) are promising tools for the treatment of autoimmune and inflammatory diseases. These multipotent stromal cells possess innate immunomodulatory properties that can…
Research
NKG-001, a new generation gene therapy being tested in SMA
On 27/08/2025
NKG-001, a novel gene therapy product featuring a next-generation AAV vector (cceAAV for covalently closed-end double-stranded AAV), was tested intravenously in two children with proximal…
Research
A new international registry for patients with myasthenia gravis
On 27/08/2025
MGBase is a registry created in 2021 to compile online data on myasthenic patients worldwide: it is directly inspired by a registry developed for multiple…