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Institut de la Myologie

Newsletter #62

Welcome to the 62nd edition of our newsletter!

This issue brings you, amongst others, news about Myobank, the Biological Resource Center of the Institute of Myology, which evolves in response to the demands of a team from the Myology Research Center.

On 23-24 June, the AFM-Telethon’s Days for Families will take place at the Parc Floral, Paris. About 2500 people are expected to participate in this event where families and patients gather in a festive setting to exchange with experts and obtain information about their neuromuscular disease.

Finally, on June 2nd, the institute will host the 10th day of discussions of the Reference Center for Neuromuscular Pathology in Paris East, on the theme “Inclusion and Citizenship in Neuromuscular Diseases”.

At the Institute
Myobank-AFM broadens its scope Myobank-AFM has evolved on a regulatory, administrative and logistical level to meet the demand of a team from the Institute’s Myology Research Center. Read more

The AFM-Telethon Days for Families at the Parc Floral, Paris On 23-24 June, the annual large gathering of the association, its supporters and staff will take place at the Parc Floral, Paris. Read more

Our latest news
The gene encoding myopalladin involved in cap myopathy Caps myopathy is genetically heterogeneous with at least three different genes involved. The authors confirm here the implication of the MYPN gene in the genesis of this myopathy. Read more

Gait analysis in GRMD dogs using linear discriminant analysis The authors describe a new method of 3D accelerometric gait analysis using linear discriminant analysis (LDA). Read more

OPMD: efficacy of dual gene therapy in mice A team supported by the AFM-Telethon has provided proof-of-concept for the efficacy of a dual gene therapy approach in a mouse model OPMD. Read more

Immortalized human myotonic dystrophy muscle cell lines to investigate molecular pathophysiologic mechanisms A collaboration with teams from the Institute of Myology has developed a new model of immortalized myotonic dystrophy muscle cells. Read more

Anoctaminopathies: the least severe clinical forms are particularly frequent Clinicians from the Institute of Myology describe the clinical and paraclinical data of a large cohort of patients in whom recessive mutations of the ANO5 gene have been demonstrated using high-throughput sequencing in a panel of genes. Read more

More breaking news
SMA: Positive opinion of the EMA for Spinraza™ The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency adopted a positive opinion for Spinraza™ a first step towards market authorisation. Read more

Follistatin gene therapy for sporadic inclusion body myositis improves functional outcomes Positive results in the first gene therapy trial bringing the follistatin gene into the muscles of patients with sporadic inclusion body myositis. Read more

Duchenne and Becker muscular dystrophies
Spinal muscular atrophy
Charcot-Marie-Tooth disease
Limb-girdle muscular dystrophies
Congenital muscular dystrophies
Other neuromuscular diseases
In brief
FDA fast track designation for vamorolone: A dissociative steroid for the treatment of DMD The treatment is being developed as a replacement for existing glucocorticoids, not as an add-on therapy. Read more

Job oppportunity Post-doctoral positions in skeletal muscle stem cells and molecular medicine are available in the team directed by Pr Frédéric Relaix at Mondor Institute of Biomedical Research (IMRB) in Paris-Est, France. Read more

Latest Publications from the Institute
Fischer, M.,Rikeit, P.,Knaus, P.,Coirault, C. YAP-Mediated Mechanotransduction in Skeletal Muscle Front Physiol, 2016 ; 7 : 41 Galant, D.,Gaborit, B.,Desgrouas, C.,Abdesselam, I.,Bernard, M.,Levy, N.,Merono, F.,Coirault, C.,Roll, P.,Lagarde, A.,Bonello-Palot, N.,Bourgeois, P.,Dutour, A.,Badens, C. A Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy Cells, 2016 ; 5 (2) : 21
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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: 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. © 2017 - AFM - Institut de Myologie. ISSN 1772-9866