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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]

Anti-SAE autoantibodies in dermatomyositis

Dermatomyositis (DM) is a rare autoimmune family of diseases in which the muscles and skin are affected by inflammation. They can occur in childhood or in adults. The autoimmune aspect of these diseases is associated in 60% of patients with the presence of DM-specific antibodies, among which the anti-SAE antibody is rare. In a retrospective … [Read more]

Analysis of the largest cohort of patients with anoctaminopathy

An international multicentre study reports the results of the analysis of the characteristics of 234 patients with ANO5-related myopathy (limb-girdle muscular dystrophy type R12 or LGMD R12, distal muscular dystrophy type 3 or MMD3, ANO5-related pseudometabolic myopathy and asymptomatic hyperCKemia). The data collected included the following: all subgroups, except for pseudometabolic myopathy, show a male … [Read more]