Blog Archives
Myology 2016 – March 16th
Wednesday opened on a symposium based on the development of innovative therapies, which make a new, booming type of medicine. Because the first drug candidates developed so far are only “prototypes”, researchers and doctors are building a strategy to tackle the disease on all fronts. Plenary session « Gene-Based Therapy and Muscular Dystrophies » Matthew … [Read more]
Myology 2016 – March 15th
Throughout this second day, Myology 2016 was the stage of plenary sessions focused on “Fundamental muscle biology and neuromuscular junction.” Plenary session This second day started with a lecture by Christophe Marcelle, initially in charge of the Australian Regenerative Medicine Institute at the University Monash in Melbourne, which has carried out the project Muscle formation, … [Read more]
Myology 2016 – March 14th
The 5th international congress of myology, Myology 2016, organised by AFM-Téléthon, has started yesterday. Throughout this week, over 800 international experts on muscle and its diseases will gather at the Palais des Congrès in Lyon. This event will be the highlight of international myology in 2016, 30 years after the discovery of the gene involved … [Read more]
Myobank present at Myology 2016
Stéphane Vasseur and Maud Chapart-Leclert, from Myobank, the research tissue bank of the Institute of Myology, will hold a booth at the international congress of Myology, in Lyon, Myology 2016, from 14 to 18 March 2016, with Anne Bigot (from the platform for the immortalisation of human cells of the Myology Centre for Research). Researchers … [Read more]
Institute seminar – 21 March – Daniel Skuk, MD (Québec)
Transplantation de cellules myogéniques dans les muscles squelettiques: leçons à tirer de nos études chez l’Homme et le Primate non humain Monday 21 March Mars2016 – 12:00-13:00 Daniel Skuk, MD (Neurosciences Area Associate Researcher, Québec CHU Centre of Research) Host : Jean-Thomas Vilquin Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 … [Read more]
Gender influences DM1 clinical profiles and severity
Myotonic Dystrophy type 1 (DM1), the most frequent adult muscular dystrophy, is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict … [Read more]
A novel test for NIPD of DMD/BMD by relative haplotype dosage
Here, the suthors describe the development of an accurate and affordable test for the non-invasive prenatal diagnosis (NIPD) of Duchenne and Becker muscular dystrophies (DMD/BMD). Cell-free DNA (cfDNA) was extracted from maternal blood and prepared for massively parallel sequencing (MPS) on an Illumina MiSeq by targeted capture enrichment of SNPs across the dystrophin gene on … [Read more]
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
Limb girdle muscular dystrophies (LGMD) are a large group of both dominantly and recessively inherited muscle diseases. LGMD1D is caused by mutated DNAJB6 and the molecular pathogenesis is mediated by defective chaperonal function leading to impaired handling of misfolded proteins which normally would be degraded. In order to facilitate diagnostic accuracy, the authors clarified muscle … [Read more]
Corticosteroid treatment of DMD: summary of practice guideline for clinicians
This paper provides a summary of the 2005 American Academy of Neurology (AAN) guideline update, “Corticosteroid treatment of Duchenne muscular dystrophy.” With the current variations in practice in corticosteroid use, the following questions regarding patients with DMD were addressed: What is the efficacy of corticosteroids, specifically their effect on survival, quality of life (QoL), motor … [Read more]
Prevalence of HSMNR in the Czech Republic
Hereditary motor and sensory neuropathy type Russe (HMSNR), also called CMT4G is an autosomal recessive inherited peripheral neuropathy (IPN) caused by a founder mutation in the HK1 gene. HMSNR affects only patients with Roma origin, similar to the better known HMSN type Lom clarified earlier. By testing IPN patients with Roma origin, the authors found … [Read more]
