Blog Archives
New TMP3 variant: the phenotypic range of TMP3-related congenital myopathy expands
Mutations in the tropomyosin 3 (TPM3) gene are associated with autosomal dominant and recessive nemaline 1 (NEM1) myopathy, congenital myopathy with disproportionate muscle fibre types and cap myopathy. This French-Chilean study reports the case of a 47-year-old man with polycythemia, restricted vital capacity and mild apnea/hypopnea syndrome, requiring non-invasive ventilation. Various additional examinations were … [Read more]
ERN EURO-NMD webinar, July 7th: Mario Gomes-Pereira & Arnaud Klein (REDs team)
Myotonic dystrophy type 1: from DNA repeat expansion and toxic RNA to the development of new therapeutic approaches Thursday July 7th, 2022 – 16:00-17:00 (Paris time) Speakers: Mario Gomes-Pereira (Gourdon group, REDs team, Myology Research Centre) & Arnaud Klein (Furling group, REDs team, Myology Research Centre) Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN. Watch … [Read more]
Muscle regeneration affects AAV vector transcription
As part of the research on the molecular mechanisms that impact AAV vector expression in pathological muscle, the group of Sofia Benkhelifa-Ziyyat (research project leader/AIM) and Stéphanie Lorain (currently project leader/AFM) from the Institute’s Myology Centre for Research evaluated the impact of the necrosis-regeneration process on AAV vector expression efficiency in Duchenne muscle. This study … [Read more]
The REDs team gathered for the IDMC-13 conference
The 13th International Myotonic Dystrophy Consortium Congress (IDMC-13) took place from 22 to 25 June 2022. It should have been held both on-site in Osaka, Japan, and online, but the health situation led the organisers to opt for a digital-only version. The members of the Repeat Expansions & Myotonic Dystrophy (REDs) team therefore followed and … [Read more]
A major 13-year study of preconception counselling and prenatal diagnosis in FSH
A retrospective study on the requests for preconception consultation or prenatal diagnosis made between January 2008 and December 2020 to the Genetic Counselling Service associated with the Italian National Registry of Facioscapulohumeral Myopathy (FSH) showed that : 60 couples requested a preconception consultation for FSH, which highlighted at least one of the future parents with … [Read more]
Clinicians from the Institute at the 8th EAN Congress
The 8th Congress of the European Academy of Neurology was held from 25 to 28 June in Vienna, Austria. Several clinicians from the Institute of Myology participated in the congress as session chairperson (Dr. Giorgia Querin), in a conversation symposium (Dr. Anthony Béhin), in oral communications (Dr. Giorgia Querin) or in case-based workshops (Dr. Tanya … [Read more]
Identification of a new communication pathway in the neuromuscular junction – Interview with Laure Strochlic
A study conducted by the “Neuromuscular connectivity in health and pathologies” team led by Laure Strochlic and Bertrand Fontaine at the Institute’s Myology Centre for Research has just been published in Science Signaling*. This work demonstrates the existence of a new communication pathway in the neuromuscular junction that is active both during embryogenesis and at … [Read more]
Advances in SMN1-related proximal spinal muscular atrophy
SMN1-related proximal spinal muscular atrophy is a type of proximal spinal muscular atrophy, a rare group of genetic diseases causing degeneration of the nerve cells conveying, from the spinal cord to the muscles, messages ordering movement: the peripheral motor neurons. A decrease in the number of muscle fibres, which cannot survive without innervation, causes a … [Read more]
Initial findings from the European registry for Lambert-Eaton syndrome
Lambert-Eaton syndrome is an ultra-rare presynaptic myasthenic syndrome of autoimmune origin. A European registry has been established with the support of the pharmaceutical industry and has identified 96 patients followed in 30 clinical centres: three-quarters of them were receiving specific treatment in the form of 3-4-DAP (3-4 didydro-aminopyridine) or one of its derivatives, 3-4 DAPP, … [Read more]
A setback in the use of monoclonal antibodies in FOP
Fibrodysplasia ossificans progessiva (FOP) is an ultra-rare disease caused by a mutation, almost always identical, in the ACVR1 gene. This gene encodes a type I bone morphogenetic protein (BMP) receptor. The clinical picture includes outbreaks of heterotopic ossification in the muscles, leading to true ankylosis. Among the many therapeutic avenues considered, the specific blocking of … [Read more]
