Blog Archives
Feasibility and reliability of muscle shear wave elastography in IBM
Degenerative muscle changes may be associated with changes in muscle mechanical properties. Shear wave elastography (SWE) allows direct quantification of muscle shear modulus (MSM). In this study, led by two teams from the Institute of Myology*, the aim was to evaluate the feasibility and reliability of SWE in the severely disordered muscle as observed in … [Read more]
MFN2 agonists reverse mitochondrial defects in preclinical models of CMT2A
Mitofusins (MFNs) promote fusion-mediated mitochondrial content exchange and subcellular trafficking. Mutations in Mfn2 cause neurodegenerative Charcot-Marie-Tooth disease type 2A (CMT2A). In this article, researchers showed that MFN2 activity can be determined by Met376 and His380 interactions with Asp725 and Leu727 and controlled by PINK1 kinase-mediated phosphorylation of adjacent MFN2 Ser378 Small-molecule mimics of the peptide-peptide … [Read more]
Cataract formation in DMD patients on long-term glucocorticoid therapy
The medical records of Duchenne muscular dystrophy (DMD) patients on long-term glucocorticoid therapy (GC) treatment were reviewed retrospectively to evaluate the development of cataracts or ocular hypertension in patients. The main outcome measures were prevalence of cataracts and ocular hypertension, age of first detection of cataract, time from initial steroid use to first detection of … [Read more]
PAX7 target genes are globally repressed in FSH skeletal muscle
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked to hypomethylation of D4Z4 repeats on chromosome 4q causing expression of the DUX4 transcription factor. However, DUX4 is difficult to detect in FSHD muscle biopsies and it is debatable how robust changes in DUX4 target gene expression are as an FSHD biomarker. PAX7 is a … [Read more]
Defining the natural history of dysferlinopathies using muscle MRI
Dysferlinopathies are caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests.Thisstudypresents cross-sectional T1-weighted muscle MRI … [Read more]
Novel dystrophin expression following long-term treatment with eteplirsen
This study describes the quantification of novel dystrophin production in patients with Duchenne muscular dystrophy (DMD) after long-term treatment with eteplirsen. Clinical study 202 was an observational, open-label extension of the randomized, controlled study 201 assessing the safety and efficacy of eteplirsen in patients with DMD with a confirmed mutation in the DMD gene … [Read more]
Release of the 67th newsletter from the Institute
Welcome to our 67th newsletter! Remember! In 2009, Martine Barkats, then at Genethon, demonstrated in mice the efficacy of the vector and its systemic administration in the central nervous system to treat spinal muscular atrophy. Thanks in particular to this work (license agreement Genethon-AveXis announced last March 14th), AveXis is now developing a gene … [Read more]
Significant reduction in examination time and user interaction with an automated whole-body MRI workflow
This prospective study aimed to evaluate the performance of an automated workflow for whole-body magnetic resonance imaging (WB-MRI), which reduces user interaction compared with the manual WB-MRI workflow. Twenty patients underwent WB-MRI for myopathy evaluation on a 3 T MRI scanner. Ten patients (7 women; age, 52 ± 13 years; body weight, 69.9 ± 13.3 … [Read more]
Refining the phenotype associated with MuSK-related CMS
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, the authors describe four additional patients and discuss the phenotypic and clinical … [Read more]
Third year bachelor’s degree students trained in myology
Since the creation of the Institute of Myology, its members have been involved in teaching science and medicine, with over 800 hours of lectures per year. These hours include participation in more than 20 university or inter-university diplomas. However, for the first time this year, an optional unit dedicated to myology was proposed to third … [Read more]
