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Identification of a new form of congenital myasthenic syndrome – Interview with M. Masingue and S. Bauché

The case of a patient presenting an atypical form of congenital myasthenic syndrome with the identification of a new mutation in the LRP4 gene has just been published in the journal Science Reports*. Result of a close collaboration between French scientists including clinicians from the Service of Neuro-Myology and researchers from the Myology Centre for … [Read more]

Institute researchers at the Ottawa NMD 2023 conference

Three researchers from the institute presented their findings at the Ottawa NMD 2023 Conference, held from 7 to 9 September in Ottawa, Canada. Communications : Friday 8 September Session 2A Clinical: Motor Neuron Disease Pathogenesis and Treatment Giorgia Querin, MD/PhD – Innovative treatments in NMD: the beginning of a new era? Saturday 9 September Session … [Read more]

Caveolinopathy: clinical, histological and muscle imaging characteristics and follow-up of a multicentre retrospective cohort

Caveolinopathies are a small group of neuromuscular diseases associated with dysfunction of a family of proteins located in muscle membrane crevices. The most common caveolinopathy is due to a deficiency of caveolin-3 and results in an autosomal dominant muscular dystrophy and a very specific rippling phenomenon (muscle undulations on contraction or percussion of the muscle). … [Read more]

Effects of valproic acid on skeletal muscle in two mouse models of DMD

Skeletal muscles in animal models of Duchenne muscular dystrophy (DMD) are more sensitive to contraction-induced functional loss, which is not related to fatigue. Valproic acid (VPA) is thought to improve serological and histological markers of damage in dystrophin-deficient murine muscles. A French study involving researchers from the Institute tested the ability of VPA to reduce … [Read more]

Description of a French cohort of patients with caveolinopathy

A group of French clinicians and geneticists, including experts from the Institute of Myology, are reporting the clinical and biological data from a large cohort of patients diagnosed with CAV3-related myopathy. twenty-three patients from 16 different families were included in the study, the average follow-up was 24 years, exercise intolerance was the most common symptom, … [Read more]

DM1: a promising new approach to gene therapy

Myotonic dystrophy type 1 (DM1), also known as Steinert disease, is a neuromuscular disorder. This rare genetic disorder affects around one in 8,000 people, making it the most common muscular disease in adults. DM1 is characterised by multi-systemic symptoms, particularly in skeletal muscles (progressive weakness and atrophy, myotonia), cardiac muscle (conduction disorders) and the central … [Read more]

Researchers from the Institute’s NMR laboratory at the ISMRM 2023 conference

Several members of the NMR Laboratory presented the team’s work at the annual ISMRM (International Society for Magnetic Resonance in Medicine) conference, held in Toronto from June 3 to 8, 2023. Communications Eléonore Vermeulen : Quantification of muscle fat fraction and water T2 via RF phase-modulated 3D gradient-echo imaging Constantin Slioussarenko : A steady-state MRF … [Read more]

International guidelines for VCP myopathies

Mutations in the VCP gene encoding valosin-containing protein cause complex neurodegenerative clinical pictures almost invariably associated with myopathy. An international consortium of experts, two of whom belong to the Institut de Myologie in Paris, has drawn up recommendations for this myopathy, which remains rare: A preliminary analysis of the literature was carried out and distributed … [Read more]

Description of the first Franco-Swiss cohort in SORD-related peripheral neuropathy

Defects in the SORD gene lead to hereditary distal motor neuropathy (dHMN type) or distal sensory-motor neuropathy (Charco-Marie-Tooth type). Discovered in 2020, there are still few cohorts of patients described in the literature. Experts from the FILNEMUS network, in association with their Swiss colleagues, published a cohort of 30 patients in March 2023: These patients … [Read more]

A look back at the 4th International Meeting on Laminopathies

The 4th International Meeting on Laminopathies, held in Madrid from 9 to 12 May 2023, brought together researchers and physicians interested in these rare diseases, representatives of the pharmaceutical industry, as well as laminopathy patients and patient organisations from around the world. The meeting welcomed 166 participants from 24 countries. By providing a forum for … [Read more]