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Institut de la Myologie


Newsletter #76

Creation of the Service of Neuromyology at the Salpêtrière hospital

Welcome to the 76th issue of our newsletter!

In this edition, you will find an interview with Bertrand Fontaine, head of the service of neuromyology at the Salpetriere hospital created last July which takes over the activity of the Clinical Unit of Neuromuscular Pathology, the historical consultation of the Institute of Myology.

In a few days, the launch of the Telethon 2019 will be given! Jean-Paul Rouve will be honored alongside the AFM-Téléthon, families and thousands of volunteers. Everyone will do their best to get the meter up and running within 30 hours. Come and join us at the Institute of Myology where staff has been mobilizing since early November, the program (in french) is online!

At the Institute
Creation of the Service of Neuromyology, headed by Bertrand Fontaine at the Salpêtrière hospital For the first time, a hospital service has been dedicated to the field of Neuromyology in a facility that allows teaching hospital activities to be conducted, recognising the specificity of the nerve-muscle combination. A complete facility dedicated to this field has been created, centred around the patient and involving a clearly defined project aimed at patient service and a specialised medical and paramedical team. Read more

Summer School of Myology - 2020 session The 23rd Summer School of Myology, a condensed 8-day course organized by the Institute of Myology in Paris, will take place at the Institut de Myologie from Monday June 22nd to Tuesday June 30th, 2020. Read more

Our latest news
CaVβ1, a promising protein to prevent sarcopenia Deciphering the mechanisms that govern skeletal muscle plasticity is essential to understanding its pathophysiological processes, including age-related sarcopenia. Read more

Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene The researchers report two original observations of alpha-dystroglycanopathy linked to the DPM3 gene. This gene, recently implicated in a very small number of patients, encodes subunit 3 of dolichol phospho-mannose synthetase. Read more

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease This study aimed to determine the effects after 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on the individual variability of the response to treatment. Read more

Risk factors associated with myasthenia gravis in thymoma patients: the potential role of thymic germinal centers The authors identified a set of histological and biological parameters that would facilitate the evaluation of the probability of the MG outcome postoperatively in thymoma patients. Read more

Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy The objective here was to identify the most responsive and sensitive clinical outcome measures in GNE myopathy. Patients were assessed prospectively by clinical, functional and quantitative nuclear magnetic resonance imaging (qNMRI) evaluations. Read more

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care The DM-Scope registry represents the largest collection of standardized data for the DM population. To date, the registry has a nationwide coverage, composed of 55 neuromuscular centres, encompassing the whole disease clinical and genetic spectrum. Read more

Novel phenotypes and cardiac involvement associated with DNA2 genetic variants The aim of this study was to report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis. Read more

KBTBD13 is an actin-binding protein that modulates muscle kinetics The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired relaxation kinetics is nemaline myopathy caused by mutations in KBTBD13 (NEM6). Read more

Scapular dyskinesis in DM1: clinical characteristics and genetic investigations Researchers have studied the records of 33 patients with a proven diagnosis of DM1 in molecular biology, and an unusual scapular phenotype that may clinically suggest FSHD type 1. Read more

More breaking news
Combination therapy with nusinersen and AVXS-101 in SMA type 1 The two innovative treatments work with different mechanisms of action. Initially treated by nusinersen, they were also treated with onasemnogene abeparvovec-xioi in a second step, because of a high risk of dependence on permanent invasive ventilation. Read more

A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene American researchers report an innovative and generic therapy (for all cases of DMC1A) consisting in overexpressing a protein structurally close to laminin alpha-2. Read more

Duchenne and Becker muscular dystrophy
Spinal muscular atrophy
Inflammatory myopathies
Limb-girdle muscular dystrophy
Myotonic dystrophy type 1
Fascioscapulohumeral muscular dystrophy
Metabolic disorders
Basic research and other disorders
In brief
2020 Eppendorf Award for Young European Investigators This award recognizes young researchers not older than 35 years with an advanced degree (Ph.D, M.D.) who are performing biomedical research in Europe based on methods of molecular biology, including novel analytical concepts. The application deadline is 15 Janueary 2020. Read more

10th ECRD - 15-16 May 2020 - Stockholm, Sweden This European Conference on Rare Diseases & Orphan Products (ECRD) provides the state-of-the-art of the rare disease environment, monitoring and benchmarking initiatives. Read more

Rare Disease Film Festival - 10 February 2020 - London, UK Rare Disease UK is hosting the UK’s first ever film festival that is dedicated to raising awareness of rare diseases. Read more

Job opportunities I-Motion is currently recruiting a Physiotherapist and the Institute of Myology is recruiting a Research assistant in molecular biology. Read more

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Every two months, the newsletter from the Institute of Myology informed you on developments in myology research, with a summary of the latest scientifics news, medical, political and community about neuromuscular diseases. You can read our newsletter by subscribing. You can unsubscribe here.
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This is the newsletter of current medical science from the Institute of Myology. It is published every two months. Chief Editor: Marie-Pierre Verrier Editorial Board: Vincent Varlet; J. Andoni Urtizberea; Bertrand Fontaine. Writing: Anne Berthomier. Also participate: Lawrence Chambers; Hala Alameddine. Do you have any questions? Would you like to share some news? Please contact us. © 2019 - AFM - Institut de Myologie. ISSN 1772-9866