Blog Archives
Absence of excess prevelance of DM2 in patients with suspected FMS
Given the assumed underreporting of Myotonic dystrophy type 2 (DM2) in the Netherlands combined with the predominant role of pain in DM2 as well as in fibromyalgia syndrome (FMS), the authors hypothesized that there will be an excess prevalence of DM2 in patients with (suspected) FMS. They aimed to determine the prevalence of DM2 … [Read more]
A novel clinical tool to classify FSHD phenotypes
In this study, the authors revised the FSHD clinical form to describe the phenotypic spectrum observed in FSHD, based on the 7-year experience of the Italian Clinical Network for FSHD. The new Comprehensive Clinical Evaluation Form (CCEF) defines various clinical categories by the combination of different features. The CCEF classifies: (1) subjects presenting facial … [Read more]
Weak correlation between echocardiography-based LV function and cardiac MRI in DMD
Cardiomyopathy in Duchenne muscular dystrophy (DMD) is associated with death in approximately 40% of patients. Echocardiography is routinely used to assess left ventricular (LV) function; however, it has limitations in these patients. Here, the authors compared echocardiographic measures of cardiac function assessment to cardiac MRI in children and young adults with DMD. Presence of late … [Read more]
Next Generation Sequencing: a first-line tool for genetic evaluation of CMD?
In this study, the diagnostic outcomes of 123 congenital muscular dystrophy (CMD) patients were evaluated using traditional and Next Generation Sequencing (NGS) technologies. Muscle biopsy and immunohistochemical analysis found deficiencies of laminin α2, α-dystroglycan or collagen VI in 50% of patients. Candidate gene sequencing and chromosomal microarray established a genetic diagnosis in 32% (39/123). Of … [Read more]
An unusual case of adult LOPD with isolated cardiomyopathy
Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII). This case report presents a 35-year-old female who presented with cardiomyopathy after a pregnancy complicated by primary … [Read more]
Institute seminar – 13 June – Franceso Saverio Tedesco (UK)
Human Artificial Chromosomes and iPS cells: « reprogramming » experimental therapies for muscular dystrophy Monday 13 june 2016 – 12:00-13:00 Franceso Saverio Tedesco (Principal Research Associate and NIHR Academic Clinical Fellow in Paediatrics, Department of Cell and Developmental Biology, Division of Biosciences, University College London, UK) Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance … [Read more]
Institute seminar – 6 June – Dr Patrice Petit (France)
Barth Syndrome: cardiolipin alterations linked to tafazzin mutations lead to apoptosis and mitophagy alterations Monday 6 june 2016 – 12:00-13:00 Dr Patrice Petit (Directeur de Recherche « Toxicologie, Pharmacologie et signalisation cellulaire », UMR 1124, INSERM, Université Paris Descartes, France) Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
F. Le Grand : Wnt/b-catenin pathway and muscle regeneration
Since March 2015, Fabien Le Grand has led the group “Regeneration, physiology and therapies” in Vincent Mouly’s team at the Myology Centre for Research. He and his team have published an article* in Cell Reports concerning Wnt/b-catenin activation in adult muscle progenitor cells. What was the objective of this study? It is well established … [Read more]
Mutations in DNMT3B: possible cause of D4Z4 derepression
Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a germline transcription factor. Somatic DUX4 derepression is caused either by a 1-10 unit repeat-array contraction (FSHD1) or by mutations in SMCHD1, which encodes a chromatin repressor that binds to D4Z4 … [Read more]
Simvastatin: a potential new therapy for DMD
Dystrophin was originally proposed to be a structural protein that protected the sarcolemma from stresses produced during contractions. However, more recently, experimental evidence has revealed a far more complicated picture, with the loss of dystrophin causing dysfunction of multiple muscle signaling pathways, which all contribute to the overall disease pathophysiology. Current gene-based approaches for Duchenne … [Read more]
