Blog Archives
Introduction to research in myology at the Institute for SU medical students – Interview with Guillaume Bassez
The Institute welcomed its first class of medical students for an introduction to research in the field of myology in April 2023. This week of training, which is part of the medical curriculum at Sorbonne University, was organised by Guillaume Bassez, neurologist and head of a research group in the Repeat Expansions & Myotonic Dystrophy … [Read more]
A European study clarifies the cardiac phenotype of children with muscular laminopathy
European neuropaediatricians and cardiologists have compiled the clinical and paraclinical data, in particular cardiac data, of a large cohort of 28 children with various phenotypes of laminopathy: 13 presented with an Emery-Dreifuss type phenotype, 11 with LMNA-related congenital muscular dystrophy (L-CMD), two with limb-girdle muscular dystrophy and two with moderate muscular deficiency, During follow-up, six … [Read more]
The Institute of Myology is proud to be a partner of the Genother Biocluster
Genother is a biocluster dedicated to accelerating the development of gene therapy drugs. It is one of the five winners of the “Biocluster” call for expressions of interest under the France 2030 Plan, as announced today by the French President, Emmanuel Macron. This labeling will strengthen France’s leadership in the field of gene therapy, largely … [Read more]
Institute seminar – 24 May – Dr Carsten Bönnemann, MD (USA)
Childhood ALS and the Missing 6th Sense: Novel SPT and PIEZO2 associated Syndromes Wednesday 24 May – 11:00-12:00 Carsten G. Bönnemann, MD (NINDS, NIH, USA) Institute of Myology amphitheatre Babinski building 47/83 Boulevard Vincent Auriol 75013 Paris métro : Chevaleret Host : Valérie Allamand (CRM)
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]
Towards better recognition of AINM in children
On the occasion of the diagnosis of a case of autoimmune necrotizing myopathy (AINM) in one of their patients, two Japanese physicians provide an update on this infrequent and therefore poorly understood pathology in paediatrics: an exhaustive and critical analysis of the literature enabled them to identify 33 cases of AINM in patients under the … [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]
Cognitive profile and treatment in SMA type I
A study reveals for the first time the effects of three available treatments for SMA on the cognitive profile of infants with SMA type I: 18 infants participated in the study, 11 SMA type I treated post-symptomatically and 7 presymptomatically, 11 received Spinraza, three received Evrysdi and four received Zolgensma, In the presymptomatically treated infants, … [Read more]
Role of caveolae in T-tubule formation in the muscle cell – Interview with Eline Lemerle and Stéphane Vassilopoulos
Eline Lemerle completed her thesis* under the supervision of Stéphane Vassilopoulos, in Marc Bitoun’s team (Muscle Organization & Therapy of Dominant Centronuclear Myopathy) at the Institute’s Myology Centre for Research. Her work on the formation of T-tubules in the muscle cell and more specifically on the role of caveolae, has just been published in the … [Read more]
Is dystrophin in plasma a new biomarker for DMD?
European researchers have demonstrated the presence of dystrophin in the plasma of patients with Duchenne muscular dystrophy (DMD): Using two antibodies specifically directed against dystrophin, fragments of this protein were found in the plasma of DMD patients, unlike in healthy subjects, DMD transmitters or patients with other neuromuscular diseases whose plasma did not contain any. … [Read more]
