Newsletter #62

Check the mail online click here

	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 A case report of 2100+ days of long-term paediatric VAD therapy Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy Rescue of dystrophin expression and recovery of the conduction system in the heart of dystrophic dogs by PPMO-mediated multiexon skipping
Spinal muscular atrophy Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool Disease impact on quality of life and therapeutic expectations of European Type II and Type III SMA patients Endocrine and metabolic consequences of SMA in children with SMA type I-III
Charcot-Marie-Tooth disease Unilateral oculomotor palsy in Charcot-Marie-Tooth disease 1A (CMT 1A) Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT
Limb-girdle muscular dystrophies Evaluating diagnostic rates and relative frequencies of LGMD using targeted NGS Efficacy of AAV-mediated transfer of FKRP in a mouse model
Congenital muscular dystrophies Mutations in INPP5K mutations and Congenital Muscular Dystrophy Electrical impedance myography (EIM) in individuals with COL6 and LAMA2 congenital muscular dystrophy
Other neuromuscular diseases Anti-HMGCR autoantibodies in UK children with myositis VAMP1 mutations cause a presynaptic congenital myasthenic syndrome Systemic AAV8-mediated gene therapy corrects the severe generalised muscle disease in myotubularin-deficient dogs A dual gene therapy approach as a novel treatment for OPMD in humans Identification of novel gene that causes autosomal dominant distal hereditary motor neuropathy
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

Newsletter subscription 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.

Also follow our news on social networks

Legal 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