Blog Archives
Institute seminar – November 17th – Erin Englund, PhD (USA)
Quantitative MRI for assessment of skeletal muscle perfusion, peripheral vascular dynamics, and muscle oxygen consumption Friday November, 17th 2017 – 16:30 – 17:30 Erin Englund, PhD (Laboratory for Structural, Physiologic and Functional Imaging (LSPFI), Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA) Host: Pierre Carlier Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building … [Read more]
Once again, 1000 researchers in schools!
From November 6th to December 1st, scientific experts, supported by the AFM-Téléthon, will meet students in high schools and colleges in France and abroad, as part of operation “1000 researchers in schools”, in partnership with the Biology and Geology Teachers’ Association (APBG). At the initiative of the AFM-Téléthon, the 5th edition of the “1000 researchers … [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. They are not associated with extramuscular manifestations, and they have a good prognosis in the absence of treatment. They are characterized by localized swelling affecting mostly lower … [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. Abnormalities in one of the COL6 genes, COL6A1, COL6A2 or COL6A3 are at the origin of myopathies such as Ullrich congenital muscular dystrophy and Bethlem myopathy. These abnormalities lead to the absence or abnormal production of collagen VI, … [Read more]
Presentations and outcomes of juvenile dermatomyositis patients admitted to intensive care units
Juvenile dermatomyositis (JDM) may be complicated by life-threatening conditions requiring paediatric ICU (PICU) management. Here, the authors report on a retrospective study of JDM patients admitted to two French hospital PICUs, describing the causes, treatment and outcomes of these severe, little-known complications in order to improve their management. They found that primary JDM vasculopathy-related … [Read more]
MTMR2 as a novel therapeutic target for myotubular myopathy
Myotubularins (MTMs) are active or dead phosphoinositides phosphatases defining a large protein family conserved through evolution and implicated in different neuromuscular diseases. Loss-of-function mutations in MTM1 cause the severe congenital myopathy called myotubular myopathy (or X-linked centronuclear myopathy) while mutations in the MTM1-related protein MTMR2 cause a recessive Charcot-Marie-Tooth peripheral neuropathy. Here, the authors … [Read more]
Efficacy of tadalafil in slowing ambulatory decline in DMD
This Phase 3 randomized trial tested the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD). The primary efficacy measure was 6-minute walk distance (6MWD) after 48 weeks. Secondary efficacy measures included North Star Ambulatory Assessment and timed function tests. … [Read more]
Release of the 64th newsletter from the Institute
Welcome to the latest issue of our newsletter! This issue gives you an overview of the main topics of the latest WMS Congress among which the evidence of the efficacy of microdystrophin in DMD and other news from the Institute of Myology. In a few weeks, the Telethon 2017 will begin. The French … [Read more]
Combining gene and cell therapy restores FKRP expression and function in a murine model of limb-girdle muscular dystrophy type 2I
α-Dystroglycanopathies are a group of muscular dystrophies characterized by α-DG hypoglycosylation and reduced extracellular ligand-binding affinity. Among other genes involved in the α-DG glycosylation process, fukutin related protein (FKRP) gene mutations generate a wide range of pathologies from mild limb girdle muscular dystrophy 2I (LGMD2I), severe congenital muscular dystrophy 1C (MDC1C), to Walker-Warburg Syndrome … [Read more]
A natural history study of X-linked myotubular myopathy
This cross-sectional study that included an online survey and a prospective, 1-year longitudinal investigation using a phone survey aimed to define the natural history of X-linked myotubular myopathy (MTM). Consistent with existing knowledge, the authors found that MTM is a disorder associated with extensive morbidities, including wheelchair (86.7% nonambulant) and ventilator (75% requiring >16 … [Read more]