Blog Archives
KLHL40-related nemaline myopathy and response to acetylcholinesterase inhibitors
Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features. Neuromuscular transmission defects have recently been reported in several patients with congenital myopathies (CM). Mutations in KLHL40 are among the most common causes of severe forms … [Read more]
Experiences of caregivers for individuals with DM1 and dysphagia
Dysphagia is a common symptom in myotonic dystrophy (DM1), that may be difficult to diagnose and treat and can be associated with increased morbidity and mortality. Preexisting cognitive impairment or apathy, both well described in the DM1 literature, may contribute to management challenges. Caregivers may become important for managing a family member’s swallowing dysfunction. … [Read more]
Institute seminar – 1st February – Véronique Morel, PhD (Lyon, France)
Drosophila Nesprin-1, a new regulator of neuromuscular junction homeostasis? 1st February 2016 – 12:00-13:00 Véronique Morel, PhD (ENS, Lyon, France) Host : Catherine Coirault Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
Identification of a novel form of recessive SCN4A-related congenital myopathy
Congenital myopathies are a clinically and genetically heterogeneous group of muscle disorders characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological features on muscle biopsy. The phenotype ranges from foetal akinesia resulting in in utero or neonatal mortality, to milder disorders that are not life-limiting. Over the past decade, more than … [Read more]
A mutation in GYG1 causes late-onset polyglucosan myopathy
In this study, the authors report on five Sardinian patients presenting in their 5th or 6th decade with progressive limb girdle muscle weakness but with muscle biopsies demonstrating vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of late-onset … [Read more]
Use of induced pluripotent stem cells as an in vitro model for FOP
Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by progressive ossification of soft tissues, for which there is no effective treatment. Mutations in the bone morphogenetic protein (BMP) type I receptor activin receptor-like kinase 2 (ACVR1/ALK2) are the main cause of FOP. Here, the authors generated human induced pluripotent stem cells (hiPSCs) from … [Read more]
The Institute of Myology is seeking a Director of the Research Center in Myology /Research & Medical Director
The Institute of Myology is seeking exceptional candidates for the position of Director of the Research Center in Myology /Research & Medical Director. Ideally, the candidate would be the same for the two positions. In close collaboration with the Chief Operating Officer, the Director of the Research Center in Myology /Research & Medical Director plan(s) … [Read more]
Institute seminar – 27 January – Terence Partridge Ph.D FMedSci (Washington DC, USA)
Does the dystrophic mdx mouse really have a stem cell problem? 27 January 2016 – 12:00-13:00 Terence Partridge Ph.D FMedSci (Center for Genetic Medicine Research, Children’s National Medical Center, Washington DC) Host : Bill Duddy Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
POPDC1 is associated with LGMD and cardiac arrhythmia
The Popeye domain-containing 1 (POPDC1) gene encodes a plasma membrane-localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 is an essential regulator of structure and function of cardiac and skeletal muscle; however, POPDC1 mutations have not been associated with human cardiac and muscular diseases. Here, the authors have described … [Read more]
Mutations in MORC2 gene cause axonal Charcot-Marie-Tooth disease
Genome-wide linkage analysis and whole exome sequencing were used in this study to identify the genetic mutation in a multigenerational Australian family with Charcot-Marie-Tooth type 2 (CMT2) and pyramidal signs. Significant linkage (2 point LOD score ≥ +3) and haplotype analysis mapped a new locus for CMT2 and pyramidal signs to a 6.6-Mb interval on chromosome … [Read more]
