Blog Archives
CAP2: a new gene responsible for nemaline myopathy
American researchers have identified, for the first time, a pathogenic variant of the CAP2 gene present in a heterozygous state in a sporadic form of nemaline myopathy. The child presented with neonatal onset hypotonia and, above all, very severe dilated cardiomyopathy: the CAP2 gene encodes a cyclase-binding protein (cyclase-associated-protein type 2), functional studies have confirmed … [Read more]
Back to the 26th Journées of the Francophone Society of the Peripheral Nerve
The 26th “Journées of the Francophone Society of the Peripheral Nerve” took place on January 21 & 22, 2022 at the New Cap Event Center in Paris. They brought together 240 participants, health professionals, clinicians, researchers on cross-cutting themes from nerve to muscle. New therapeutic targets in neuromuscular diseases, and in particular in autoimmune myasthenia … [Read more]
Myobank-AFM ’s quality certification is renewed for 3 years
Myobank-AFM, the Research Tissue Bank of the Institute of Myology, is a non-profit service involved in the collection, preparation, storage and distribution of human tissue samples, primarily from people with neuromuscular or rare diseases but also healthy subjects. This center of biological resources is intended for the exclusive use of research and this, in respect … [Read more]
ERN EURO-NMD webinar, Feb 3rd: Pr Cornelia Kornblum (Germany)
An introduction into mitochondrial diseases in adulthood Thursday February 3rd, 2022 – 16:00-17:00 (Paris time) Pr Cornelia Kornblum (Bonn University/Universitary Clinic of Bonn, Germany) “Mitochondrial Disorders Thematic Month” Webinar organised by EURO-NMD.
Charles Frison-Roche wins Oral Research Communication Prize awarded by SFM – Interview
Charles Frison-Roche has received the Oral Research Communication Prize, awarded by the French Myology Society (SFM). He is a PhD student in the REDs team headed by Denis Furling and Geneviève Gourdon, at the Myology Research Centre and the Institute of Myology. Under the supervision of Frédérique Rau, he is working on the pathophysiology of … [Read more]
Idiopathic inflammatory myopathies: links between interstitial lung disease and myositis-specific autoantibodies
One of the most common extramuscular manifestations of idiopathic inflammatory myopathies is interstitial lung disease. In addition, the diagnosis of IMI includes the search for myositis-specific autoantibodies. In this study, a team of French researchers and clinicians involving experts from the institute, included 257 patients with idiopathic inflammatory myopathies followed between 2003 and 2019. After … [Read more]
Evaluation of a reference method to assess the function of the diaphragm
The link between transdiaphragmatic pressure (TDP) and diaphragmatic thickening fraction (DTF) is a gold standard method for assessing diaphragmatic function that is not clearly established. A team of French researchers and clinicians, including researchers from the Institute of Myology, analyzed the global and intra-individual link between these two criteria during a study including 14 healthy … [Read more]
Benefits of wheelchair hockey identified in SMA and DMD
An Italian study of 25 men aged between 18 and 40 with SMA or DMD investigated the effects of playing wheelchair hockey on quality of life, well-being and coping skills. The results of this study show that: this sport would have a positive impact on well-being; the quality of life score is improved by 4.4 … [Read more]
Circulating neurofilaments: a sensitive biomarker in SMA
An American study carried out in 90 children under three with SMA evaluated the interest of quantifying circulating neurofilaments (NF) to detect the disease and assess the response to different therapies. Its results show that: circulating NF levels are particularly high during the first months period of life in children with SMA and reflect neuronal … [Read more]
Alternative splicing helps control the plasticity of clathrin structures
Depending on cell types, clathrin assembles into plaques or produces spherical structures for some unknown reason, just as we do not know how this plasticity is controlled during differentiation. Researchers at the Institute of Myology have sought to assess the link between the alternative splicing of CLTC gene exon 31 encoding the heavy chain of … [Read more]
