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Institut de la Myologie

Newsletter #65

The Institute of Myology wishes you a very happy new year 2018!

Welcome to the 65th issue of our newsletter!

The Telethon 2017 ended on a counter of more than 75 million euros. A falling number that finds its major explanation in the attention naturally paid to the funeral of Johnny Hallyday, an extremely popular French singer. Thank you to all those who contributed and participated.

Next February 28th, the 11th edition of Rare Disease Day will take place. Take part in an interactive face paint social media campaign to raise awareness of rare diseases and show your support for the rare disease community! “Show your rare. Show you care.”

We hope you enjoy this first newsletter of the year and take this opportunity to present you our best wishes for 2018.

At the Institute
Achievements and perspectives – An interview with Marianne Perreau-Saussine Marianne Perreau-Saussine, General Secretary of the Institute of Myology, highlights the main achievements of the institute during 2017 and outlines the perspectives for 2018. Read more

Major European grant for research into rare diseases: Pooling resources for diagnostics of the future A large european consortium, including Centre de Recherche en Myologie, has acquired a € 15 million grant for the SOLVE-RD research program in order to improve the diagnosis of rare diseases. Read more

The Achilles heel of the muscle cell – Interview with S. Vassilopoulos Working in the “Physiopathology & Therapy of Autosomal Dominant Centronuclear Myopathy” team led by Marc Bitoun, Stéphane Vassilopoulos is interested in muscle-cell membrane proteins, particularly, clathrin and its implication in myopathies. Read more

Recent recruitments of patients at I-Motion In Italpharmaco (DMD), Firefish et Sunfish (SMA) clinical trials, I-Motion is recruiting patients. Read more

Pierre Klein awarded 3 prizes Pierre Klein, a former PhD student at the Institute of Myology, has been awarded 3 prizes within the space of a few months. Read more

Our latest news
1 H NMRS as a biomarker to better characterize skeletal muscle pH dysregulation in DMD In recent years, quantitative nuclear magnetic resonance imaging and spectroscopy (NMRI and NMRS) have been used more systematically as outcome measures in natural history and clinical trial studies for Duchenne muscular dystrophy (DMD). Read more

Toll-like receptor signalling and ectopic lymphoid development in Myasthenia Gravis The thymus of Myasthenia gravis patients is very often abnormal and possesses all the characteristics of tertiary lymphoid organs (neoangiogenesis processes, overexpression of inflammatory cytokines and chemokines, and infiltration of B lymphocytes leading to ectopic germinal center (GC) development). Read more

Pompe disease and enzyme replacement therapy in severely affected adults: The French experience The French Pompe Study Group reviewed adults with Pompe disease whose enzyme therapy was started at a time when they were all severely affected, both in terms of motor and respiratory functions. Read more

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase Using bioinformatics analysis and protein engineering, the authors of this study developed transgenes encoding GAA that could be expressed and secreted by hepatocytes. Read more

Female carriers of myotubular myopathy: a varied and frequent symptomatology An analysis of clinical, genetic and histopathological data was performed in seventeen new cases. Together with twenty-six previously reported cases, the analysis highlighted a wide spectrum of phenotypes. Read more

Focal myositis: An unknown disease Focal myositis are inflammatory muscle diseases of unknown origin. Contrary to the other idiopathic inflammatory myopathies, they are restricted to a single muscle or a muscle group. Read more

Centronuclear myopathy linked to the RYR1 gene: an emerging form of congenital myopathy An international consortium of researchers described a recent discovery associating centronuclear lesions and mutations of the RYR1 gene, the latter coding for a ryanodine receptor. Read more

More breaking news
Nusinersen improves survival and motor function in infantile-onset SMA Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene. Read more

Collagen VI-related congenital muscular dystrophies: restoring normal collagen VI A research team has succeeded in re-expressing normal collagen VI in cellular models of collagen VI-related myopathy. Read more

Natural history of infantile-onset SMA Clinical trials in patients with infantile-onset spinal muscular atrophy (SMA) require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. Read more

Duchenne muscular dystrophy
Spinal muscular atrophy
Myasthenia gravis
Metabolic diseases
Inflammatory myopathies
Myotubular Myopathy
Other neuromuscular diseases and basic research
In brief
21st Paris Summer School of Myology The 21st Summer School of Myology will take place at the Institut de Myologie from Monday June 18th to Saturday June 23rd 2018. Applications are currently being received will be assessed until mid-May 2018. Read more

Rare Disease Day 2018 – Get involved! Rare Disease Day 2018 is on 28 February, 10 years since it first took place in 2008! The 2018 campaign focuses patients as proactive actors in research: they kick start, drive, and organise research, as well as proactively providing data. Read more

AFM-Téléthon call for proposals This International Call for Proposals is open to both French and foreign groups. Applications for 2018 PhD Proposals are opened until April 2018. Read more

WMS 23 - Mendoza, Argentina The 23rd International Annual Congress of the World Muscle Society (WMS) in 2018 will be held for the second time in South America in the city of Mendoza, Argentina, from October 2-6, 2018. Read more

ICNMD 2018 - Vienna, Austria The 15th International Congress on Neuromuscular Diseases will take place in Vienna, Austria, from July 6 – 10, 2018. Read more

Job opportunity Prof.Matthew Wood from University of Oxford (UK) is looking for a highly motivated, experienced research assistant to join his lab. Read more

Latest Publications from the Institute
Fayssoil, A.,Behin, A.,Ogna, A.,Mompoint, D.,Amthor, H.,Clair, B.,Laforet, P.,Mansart, A.,Prigent, H.,Orlikowski, D.,Stojkovic, T.,Vinit, S.,Carlier, R.,Eymard, B.,Lofaso, F.,Annane, D. Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders J Neuromuscul Dis, 2017 ; (SP) : Ben Yaou, R,Hubert, A.,Nelson, I,Dahlqvist, J R,Gaist, D,Streichenberger, N,Beuvin, M,Krahn, M,Petiot,P,Parisot, F,Michel, F.,Malfatti, E,Romero, N,Carlier, R Y,Eymard, B,Labrune, P,Duno, M.,Krag, T,Cerino, M.,Bartoli, M,Bonne, G,Vissing, J,Laforet, P.,Petit, F Clinical heterogeneity and phenotype/genotype findings in 5 families with glycogenin 1 deficiency Neurology Genetics, 2017 ; (SP) : Lilleker, J. B.,Vencovsky, J.,Wang, G.,Wedderburn, L. R.,Diederichsen, L. P.,Schmidt, J.,Jordan, P.,Benveniste, O.,Danieli, M. G.,Danko, K.,Phuong Thuy, N. T.,Mercado, M. V.,Andersson, H.,Paepe, B.,De Bleecker, J. L.,Maurer, B.,McCann, L. J.,Pipitone, N.,McHugh, N.,Betteridge, Z.,New, P.,Cooper, R. G.,Ollier, W. E.,Lamb, J. A.,Krogh, N. S.,Lundberg, I. E.,Chinoy, H.,all EuroMyositis, contributors Response to: 'Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria' by Cavagna et al. Ann Rheum Dis, 2017 ; (SP) : Ibanez-Julia, M. J.,Berzero, G.,Reyes-Botero, G.,Maisonobe, T.,Lenglet, T.,Slim, M.,Louis, S.,Balaguer, A.,Sanson, M.,Le Guern, E.,Latour, P.,Ricard, D.,Stojkovic, T.,Psimaras, D. Antineoplastic agents exacerbating Charcot Marie tooth disease: red flags to avoid permanent disability Acta Oncol, 2017 ; (SP) : 1-9 Benedetti, S.,Uno, N.,Hoshiya, H.,Ragazzi, M.,Ferrari, G.,Kazuki, Y.,Moyle, L. A.,Tonlorenzi, R.,Lombardo, A.,Chaouch, S.,Mouly, V.,Moore, M.,Popplewell, L.,Kazuki, K.,Katoh, M.,Naldini, L.,Dickson, G.,Messina, G.,Oshimura, M.,Cossu, G.,Tedesco, F. S. Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next-generation human artificial chromosomes for Duchenne muscular dystrophy EMBO Mol Med, 2017 ; (SP) : Bourdenet, G.,Dubourg, B.,Nicol, L.,Mulder, P.,Martinet, J.,Allenbach, Y.,Boitard, C.,Boyer, O. Value of magnetic resonance imaging for evaluating muscle inflammation: insights from a new mouse model of myositis Neuropathol Appl Neurobiol, 2017 ; (SP) : Bradburn, S.,McPhee, J.,Bagley, L.,Carroll, M.,Slevin, M.,Al-Shanti, N.,Barnouin, Y.,Hogrel, J. Y.,Paasuke, M.,Gapeyeva, H.,Maier, A.,Sipila, S.,Narici, M.,Robinson, A.,Mann, D.,Payton, A.,Pendleton, N.,Butler-Browne, G.,Murgatroyd, C. Dysregulation of C-X-C motif ligand 10 during aging and association with cognitive performance Neurobiol Aging, 2017 ; 63 : 54-64 Lorant, J.,Saury, C.,Schleder, C.,Robriquet, F.,Lieubeau, B.,Negroni, E.,Leroux, I.,Chabrand, L.,Viau, S.,Babarit, C.,Ledevin, M.,Dubreil, L.,Hamel, A.,Magot, A.,Thorin, C.,Guevel, L.,Delorme, B.,Pereon, Y.,Butler-Browne, G.,Mouly, V.,Rouger, K. Skeletal Muscle Regenerative Potential of Human MuStem Cells following Transplantation into Injured Mice Muscle Mol Ther, 2017 ; (SP) : Allenbach, Y.,Mammen, A. L.,Stenzel, W.,Benveniste, O. 224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016 Neuromuscul Disord, 2017 ; (SP) : Stojkovic, T.,Chanut, A.,Laforet, P.,Madelaine, A.,Petit, F.,Romero, N. B.,Malfatti, E. Severe asymmetric muscle weakness revealing Glycogenin-1 polyglucosan body myopathy Muscle Nerve, 2017 ; (SP) : Mariot, V.,Joubert, R.,Hourde, C.,Feasson, L.,Hanna, M.,Muntoni, F.,Maisonobe, T.,Servais, L.,Bogni, C.,Le Panse, R.,Benvensite, O.,Stojkovic, T.,Machado, P. M.,Voit, T.,Buj-Bello, A.,Dumonceaux, J. Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches Nat Commun, 2017 ; 8 (1) : 1859 Puzzo, F.,Colella, P.,Biferi, M. G.,Bali, D.,Paulk, N. K.,Vidal, P.,Collaud, F.,Simon-Sola, M.,Charles, S.,Hardet, R.,Leborgne, C.,Meliani, A.,Cohen-Tannoudji, M.,Astord, S.,Gjata, B.,Sellier, P.,van Wittenberghe, L.,Vignaud, A.,Boisgerault, F.,Barkats, M.,Laforet, P.,Kay, M. A.,Koeberl, D. D.,Ronzitti, G.,Mingozzi, F. Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid alpha-glucosidase Sci Transl Med, 2017 ; 9 (418) : Captur, G.,Arbustini, E.,Bonne, G.,Syrris, P.,Mills, K.,Wahbi, K.,Mohiddin, S. A.,McKenna, W. J.,Pettit, S.,Ho, C. Y.,Muchir, A.,Gissen, P.,Elliott, P. M.,Moon, J. C. Lamin and the heart Heart, 2017 ; (SP) : Ostergaard, S. T.,Johnson, K.,Stojkovic, T.,Krag, T.,De Ridder, W.,De Jonghe, P.,Baets, J.,Claeys, K. G.,Fernandez-Torron, R.,Phillips, L.,Topf, A.,Colomer, J.,Nafissi, S.,Jamal-Omidi, S.,Bouchet-Seraphin, C.,Leturcq, F.,MacArthur, D. G.,Lek, M.,Xu, L.,Nelson, I.,Straub, V.,Vissing, J. Limb girdle muscular dystrophy due to mutations in POMT2 J Neurol Neurosurg Psychiatry, 2017 ; (SP) : Fayssoil, A.,Yaou, R. B.,Ogna, A.,Leturcq, F.,Nardi, O.,Clair, B.,Wahbi, K.,Lofaso, F.,Laforet, P.,Duboc, D.,Orlikowski, D.,Annane, D. Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation ESC Heart Fail, 2017 ; 4 (4) : 527-534 Stemmerik, M. G.,Madsen, K. L.,Laforet, P.,Buch, A. E.,Vissing, J. Muscle glycogen synthesis and breakdown are both impaired in glycogenin-1 deficiency Neurology, 2017 ; (SP) : Allamand, V. Muscle Membrane Serendipity conference : Past, Present, and Future Conference1 - 20-23 juillet 2017, Iowa City Med Sci (Paris), 2017 ; 33 Hors Serie : 67 Reyngoudt, H.,Turk, S.,Carlier, P. G. (1) H NMRS of carnosine combined with (31) P NMRS to better characterize skeletal muscle pH dysregulation in Duchenne muscular dystrophy NMR Biomed, 2017 ; (SP) : Finkel, R. S.,Mercuri, E.,Darras, B. T.,Connolly, A. M.,Kuntz, N. L.,Kirschner, J.,Chiriboga, C. A.,Saito, K.,Servais, L.,Tizzano, E.,Topaloglu, H.,Tulinius, M.,Montes, J.,Glanzman, A. M.,Bishop, K.,Zhong, Z. J.,Gheuens, S.,Bennett, C. F.,Schneider, E.,Farwell, W.,De Vivo, D. C.,Endear Study Group Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy N Engl J Med, 2017 ; 377 (18) : 1723-1732 Ruiz-Del-Yerro, E.,Garcia-Jimenez, I.,Mamchaoui, K.,Arechavala-Gomeza, V. Myoblots: dystrophin quantification by in-cell western assay for a streamlined development of DMD treatments Neuropathol Appl Neurobiol, 2017 ; (SP) : Sayah, S.,Rotge, J. Y.,Francisque, H.,Gargiulo, M.,Czernecki, V.,Justo, D.,Lahlou-Laforet, K.,Hahn, V.,Pandolfo, M.,Pelissolo, A.,Fossati, P.,Durr, A. Personality and Neuropsychological Profiles in Friedreich Ataxia Cerebellum, 2017 ; (SP) : Kutchukian, C.,Szentesi, P.,Allard, B.,Trochet, D.,Beuvin, M.,Berthier, C.,Tourneur, Y.,Guicheney, P.,Csernoch, L.,Bitoun, M.,Jacquemond, V. Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy J Physiol, 2017 ; (SP) : Farre Garros, R.,Paul, R.,Connolly, M.,Lewis, A.,Garfield, B. E.,Natanek, S. A.,Bloch, S.,Mouly, V.,Griffiths, M. J.,Polkey, M. I.,Kemp, P. R. miR-542 Promotes Mitochondrial Dysfunction and SMAD Activity and is Raised in ICU Acquired Weakness Am J Respir Crit Care Med, 2017 ; (SP) : Biancalana, V.,Scheidecker, S.,Miguet, M.,Laquerriere, A.,Romero, N. B.,Stojkovic, T.,Abath Neto, O.,Mercier, S.,Voermans, N.,Tanner, L.,Rogers, C.,Ollagnon-Roman, E.,Roper, H.,Boutte, C.,Ben-Shachar, S.,Lornage, X.,Vasli, N.,Schaefer, E.,Laforet, P.,Pouget, J.,Moerman, A.,Pasquier, L.,Marcorelle, P.,Magot, A.,Kusters, B.,Streichenberger, N.,Tranchant, C.,Dondaine, N.,Schneider, R.,Gasnier, C.,Calmels, N.,Kremer, V.,Nguyen, K.,Perrier, J.,Kamsteeg, E. J.,Carlier, P.,Carlier, R. Y.,Thompson, J.,Boland, A.,Deleuze, J. F.,Fardeau, M.,Zanoteli, E.,Eymard, B.,Laporte, J. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues Acta Neuropathol, 2017 ; 134 (6) : 889-904 Cid-Diaz, T.,Santos-Zas, I.,Gonzalez-Sanchez, J.,Gurriaran-Rodriguez, U.,Mosteiro, C. S.,Casabiell, X.,Garcia-Caballero, T.,Mouly, V.,Pazos, Y.,Camina, J. P. Obestatin controls the ubiquitin-proteasome and autophagy-lysosome systems in glucocorticoid-induced muscle cell atrophy J Cachexia Sarcopenia Muscle, 2017 ; (SP) : Querin, G.,Corcia, P.,Lenglet, T.,Stojkovic, T.,Leguern, E.,Cazeneuve, C.,Pradat, P. F. Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant Rev Neurol (Paris), 2017 ; (SP) : Dany, A.,Rapin, A.,Lavrard, B.,Saout, V.,Reveillere, C.,Bassez, G.,Tiffreau, V.,Pereon, Y.,Sacconi, S.,Eymard, B.,Drame, M.,Jolly, D.,Novella, J. L.,Hardouin, J. B.,Boyer, F. C. Quality of Life in Patients with Genetic Neuromuscular Disease Questionnaire: Rasch validation of the French Version (QoL-gNMD) Muscle Nerve, 2017 ; (SP) :
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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: Marianne Perreau-Saussine; J. Andoni Urtizberea. Redaction: Racquel N. Cooper; Anne Berthomier. Also participate: Nathalie Haslin; Hala Alameddine; Delphine Alibert. Do you have any questions? Would you like to share some news? Please contact us. © 2018 - AFM - Institut de Myologie. ISSN 1772-9866