1,600 results match your criteria Facioscapulohumeral Dystrophy

Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-Sectional Analysis.

Neurology 2022 Jun 24. Epub 2022 Jun 24.

Fulcrum Therapeutics, Cambridge, MA.

Background And Objectives: Facioscapulohumeral muscular dystrophy (FSHD) is a rare, debilitating disease characterized by progressive muscle weakness. MRI is a sensitive assessment of disease severity and progression. We developed a quantitative whole-body (WB) musculoskeletal MRI (WB-MSK-MRI) protocol analyzing muscles in their entirety. Read More

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A pilot study of a single intermittent arm cycling exercise programme on people affected by Facioscapulohumeral dystrophy (FSHD).

PLoS One 2022 24;17(6):e0268990. Epub 2022 Jun 24.

Robert Jones and Agnes Hunt Orthopaedic Hospital (RJAH) Foundation Trust, Gobowen, Oswestry, United Kingdom.

For patients affected by Facioscapulohumeral dystrophy (FSHD), alternate methods for increasing physical activity engagement that may benefit shoulder function and wider health are needed. Arm cycling has been proposed as a potential method for achieving this although dosage parameters and evidence is limited. The aim of this study was to conduct a pilot study evaluating the effect of a single intermittent arm cycling exercise programme on people affected by FSHD. Read More

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FSHD Therapeutic Strategies: What Will It Take to Get to Clinic?

J Pers Med 2022 May 25;12(6). Epub 2022 May 25.

The Department of Pharmacology, University of Nevada, Reno School of Medicine, Reno, NV 89557, USA.

Facioscapulohumeral muscular dystrophy (FSHD) is arguably one of the most challenging genetic diseases to understand and treat. The disease is caused by epigenetic dysregulation of a macrosatellite repeat, either by contraction of the repeat or by mutations in silencing proteins. Both cases lead to chromatin relaxation and, in the context of a permissive allele, pathogenic misexpression of in skeletal muscle. Read More

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Spatio-temporal gait differences in facioscapulohumeral muscular dystrophy during single and dual task overground walking - A pilot study.

J Clin Transl Res 2022 Apr 19;8(2):166-175. Epub 2022 Mar 19.

Department of Kinesiology, School of Public Health, University of Nevada, Reno, 89557, USA.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disorder leading to progressive muscle loss over time. Research indicates that this progressive muscular atrophy can negatively impact spatio-temporal gait characteristics, but this is not always the case during early-onset or mild cases of the disease. In addition, the performance of a secondary task during overground walking may elucidate greater deficits in spatio-temporal characteristics of gait. Read More

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Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic.

J Neuromuscul Dis 2022 Jun 14. Epub 2022 Jun 14.

Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA.

Introduction: In this study, we examined the long-term social and health impacts of the coronavirus disease 2019 (COVID-19) pandemic on people with muscular dystrophy.

Methods: We modified our prior COVID-19 Impact Survey to assess impacts from the continuing pandemic using feedback from muscular dystrophy experts, patients, and advocacy group/registry representatives. The survey assessed COVID-19 medical history, and the effects of the pandemic on social aspects, muscle disease, and medical care. Read More

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The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors.

FEBS Lett 2022 Jun 3. Epub 2022 Jun 3.

Laboratorio de Genética y Biología Molecular, IRNASUS-CONICET, Facultad de Ciencias Químicas, Universidad Católica de Córdoba, Argentina.

DUX4 is a transcription factor required during early embryonic development in placental mammals. In this work, we provide evidence that DUX4 is a co-repressor of nuclear receptors (NRs) of progesterone (PR) and glucocorticoids (GR). The DUX4 C-ter and N-ter regions, including the nuclear localization signals and homeodomain motifs, contribute to the co-repressor activity of DUX4 on PR and GR. Read More

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Interaction between mesenchymal stem cells and myoblasts in the context of facioscapulohumeral muscular dystrophy contributes to the disease phenotype.

J Cell Physiol 2022 May 27. Epub 2022 May 27.

N. K. Koltzov Institute of Developmental Biology, RAS, Moscow, Russia.

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disease associated with ectopic expression of the DUX4 gene in skeletal muscle. Muscle degeneration in FSHD is accompanied by muscle tissue replacement with fat and connective tissue. Expression of DUX4 in myoblasts stimulates mesenchymal stem cells (MSC) migration via the CXCR4-CXCL12 axis. Read More

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ScapuloThoracic Arthrodesis for Facio-Scapulo-Humeral Dystrophy: Outcomes at mean 7.3 years [3.5-13] follow-up. CT measurement of the fixation position of the arthrodesis and radioclinical correlations.

Orthop Traumatol Surg Res 2022 May 18:103331. Epub 2022 May 18.

CHU Lille, Orthopaedic and Traumatology Department, Hôpital Roger Salengro, 59000 Lille, France. Electronic address:

Introduction: Scapulothoracic arthrodesis may be proposed to patients having facio-scapulohumeral dystrophy to achieve gains in shoulder motion and pain relief. This study aimed to assess shoulder motion, pain and functional scores at last follow-up and to present a method of computed tomography measurements of the position of the scapulothoracic arthrodesis and study their correlations with shoulder motion.

Patients And Methods: Seven patients (11 arthrodesis) were included. Read More

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Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability.

Muscle Nerve 2022 May 18. Epub 2022 May 18.

AMRA Medical AB, Linköping, Sweden.

Introduction/aims: Functional performance tests are the gold standard to assess disease progression and treatment effects in neuromuscular disorders. These tests can be confounded by motivation, pain, fatigue, and learning effects, increasing variability and decreasing sensitivity to disease progression, limiting efficacy assessment in clinical trials with small sample sizes. We aimed to develop and validate a quantitative and objective method to measure skeletal muscle volume and fat content based on whole-body fat-referenced magnetic resonance imaging (MRI) for use in multisite clinical trials. Read More

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Development and validation of the patient-reported "Facial Function Scale" for facioscapulohumeral muscular dystrophy.

Disabil Rehabil 2022 May 16:1-6. Epub 2022 May 16.

Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Purpose: Facial weakness and its functional consequences are an often underappreciated clinical feature of facioscapulohumeral muscular dystrophy (FSHD) by healthcare professionals and researchers. This is at least in part due to the fact that there are few adequate clinical outcome measures available.

Methods: We developed the Facial Function Scale, a Rasch-built questionnaire on the functional disabilities relating to facial weakness in FSHD. Read More

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Corrigendum: Sarcopenic Obesity in Facioscapulohumeral Muscular Dystrophy.

Front Physiol 2022 28;13:908605. Epub 2022 Apr 28.

Division of Rehabilitation Science, University of Minnesota, Minneapolis, MN, United States.

[This corrects the article DOI: 10.3389/fphys.2020. Read More

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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update.

Indian J Pathol Microbiol 2022 May;65(Supplement):S259-S270

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India.

Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration. Congenital muscular dystrophies (CMD) include dystroglycanopathies, merosin-deficient CMD, collagen VI-deficient CMD, SELENON-related rigid spine muscular dystrophy, and LMNA-related CMD. Read More

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Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study.

BMC Res Notes 2022 May 10;15(1):163. Epub 2022 May 10.

Department of Neurology, Boston University School of Medicine, 700 Albany Street, Room 408K, Boston, MA, 02118, USA.

Objective: Aberrant expression in skeletal muscle of DUX4, a double homeobox transcription factor, underlies pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). Although previous studies of FSHD muscle biopsies detected mRNAs encoding DUX4 and its target genes, no studies had reported detection of DUX4 protein. Our objective was to develop a proximity ligation assay (PLA) for DUX4 and to determine if this assay could detect DUX4 protein in FSHD muscle sections. Read More

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Cognitive profile of patients with facioscapulohumeral muscular dystrophy.

Dement Neuropsychol 2021 Oct-Dec;15(4):541-547

Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul - Porto Alegre, RS, Brazil.

Although it is predominantly a muscular disease, impairments in the central nervous system in patients with facioscapulohumeral muscular dystrophy (FSHD) have been described in the literature.

Objective: To describe the cognitive profile of patients with FSHD and to correlate the impairments found with clinical variables and quality of life.

Methods: Cross-sectional and case-control study that evaluated FSHD patients using a series of cognitive assessments (Mini-Mental State Examination - MMSE, Montreal Cognitive Assessment - MoCA, verbal fluency with phonological restriction - FAS, categorical verbal fluency - FAS-cat, trail-making test - TMT, and Rey's Verbal Auditory Learning Test); a neurological severity scale (Gardner-Medwin-Walton - GMWS); and a quality of life measurement tool (Medical Outcomes Study 36-Item Short-Form Health Survey). Read More

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January 2021

Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.

Health Sci Rep 2022 May 20;5(3):e614. Epub 2022 Apr 20.

Department of Biomedical, Metabolic and Neural Sciences University of Modena and Reggio Emilia Modena Italy.

Background And Aims: This is the first national population-based report about prenatal diagnosis for families with a history of facioscapulohumeral muscular dystrophy (FSHD), a complex hereditary disease. The incomplete disease penetrance and the phenotypic heterogeneity observed in carriers of D4Z4 alleles of reduced size, the FSHD molecular hallmark, make the estimate of genetic risk problematic.

Methods: We considered all requests of preconception counseling and prenatal diagnosis received between January 2008 and December 2020 by the genetic counseling service associated with the Italian National Registry for FSHD (INRF). Read More

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Dynamic magnetic resonance imaging of muscle contraction in facioscapulohumeral muscular dystrophy.

Sci Rep 2022 05 4;12(1):7250. Epub 2022 May 4.

Neuroradiology Department, Advanced Imaging and Radiomics Center, IRCCS Mondino Foundation, Pavia, Italy.

Quantitative muscle MRI (water-T2 and fat mapping) is being increasingly used to assess disease involvement in muscle disorders, while imaging techniques for assessment of the dynamic and elastic muscle properties have not yet been translated into clinics. In this exploratory study, we quantitatively characterized muscle deformation (strain) in patients affected by facioscapulohumeral muscular dystrophy (FSHD), a prevalent muscular dystrophy, by applying dynamic MRI synchronized with neuromuscular electrical stimulation (NMES). We evaluated the quadriceps muscles in 34 ambulatory patients and 13 healthy controls, at 6-to 12-month time intervals. Read More

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2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.

Heart Rhythm 2022 Apr 26. Epub 2022 Apr 26.

Mayo Clinic College of Medicine, Phoenix, Arizona.

This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders (NMDs). The document presents an overview of arrhythmias in NMDs followed by detailed sections on specific disorders: Duchenne muscular dystrophy, Becker muscular dystrophy, and limb-girdle muscular dystrophy type 2; myotonic dystrophy type 1 and type 2; Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B; facioscapulohumeral muscular dystrophy; and mitochondrial myopathies, including Friedreich ataxia and Kearns-Sayre syndrome, with an emphasis on managing arrhythmic cardiac manifestations. End-of-life management of arrhythmias in patients with NMDs is also covered. Read More

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Feasibility and Safety of Applying the Functional Electrical Stimulation to Child with Facioscapulohumeral Dystrophy: A Case Report.

Phys Occup Ther Pediatr 2022 Apr 26:1-10. Epub 2022 Apr 26.

Hacettepe University Faculty of Physical Therapy and Rehabilitation, Ankara, Turkey.

Aims: This study aims to investigate the feasibility and safety of short-term functional electrical stimulation (FES) training of the quadriceps femoris muscles in a child with facioscapulohumeral muscular dystrophy (FSHD).

Methods: A 7-year-old child with FSHD received treatment due to a decrease in functional performance and difficulty climbing stairs. The child was followed up with a home-based exercise program. Read More

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Antiapoptotic Protein FAIM2 is targeted by miR-3202, and DUX4 via TRIM21, leading to cell death and defective myogenesis.

Cell Death Dis 2022 Apr 25;13(4):405. Epub 2022 Apr 25.

Lillehei Heart Institute, Minneapolis, USA.

Inappropriate expression of DUX4, a transcription factor that induces cell death at high levels of expression and impairs myoblast differentiation at low levels of expression, leads to the development of facioscapulohumeral muscular dystrophy (FSHD), however, the pathological mechanisms downstream of DUX4 responsible for muscle loss are poorly defined. We performed a screen of 1972 miR inhibitors for their ability to interfere with DUX4-induced cell death of human immortalized myoblasts. The most potent hit identified by the screen, miR-3202, is known to target the antiapoptotic protein FAIM2. Read More

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Baroreflex sensitivity in facioscapulohumeral muscular dystrophy.

Physiol Rep 2022 04;10(8):e15277

Division of Physical Therapy, Medical School, University of Minnesota, Minneapolis, Minnesota, USA.

Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss. Although it is suggested that cardiac muscle may be spared, people with FSHD have demonstrated autonomic dysregulation. Read More

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Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.

Muscle Nerve 2022 Jul 9;66(1):50-62. Epub 2022 May 9.

Acceleron Pharma, Cambridge, Massachusetts, USA.

Introduction/aims: Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. In this study we evaluated whether locally acting ACE-083 could safely increase muscle volume and improve functional outcomes in adults with FSHD.

Methods: Participants were at least 18 years old and had FSHD1/FSHD2. Read More

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Serum miRNAs as biomarkers for the rare types of muscular dystrophy.

Neuromuscul Disord 2022 04 11;32(4):332-346. Epub 2022 Mar 11.

Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus. Electronic address:

Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, has been performed on the biomarkers' development for the most rare muscular dystrophies, like the Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2. Read More

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Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights.

RNA Biol 2022 31;19(1):507-518. Epub 2021 Dec 31.

Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some of the members of this family of disorders. In addition to the current diagnostic tools, there is an increasing interest for the development of novel non-invasive biomarkers for the diagnosis and monitoring of these diseases. Read More

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December 2021

Orofacial Manifestations Associated with Muscular Dystrophies: A Review.

Turk J Orthod 2022 Mar;35(1):67-73

Department of Orthodontics, Marmara University, Faculty of Dentistry, İstanbul, Turkey.

The aim of this review is to evaluate the developmental, functional, and morphological aspects of the craniofacial complex in patients with myotonic dystrophy type 1 (DM1), Facioscapulohumeral muscular dystrophy (FSHD), and Duchenne muscular dystrophy (DMD). The degree of disease onset and severity varied from patient to patient, and most parameters indicated a greater degree of deterioration in older patients. It was found that all the muscular dystrophies studied showed altered craniofacial morphology, with malocclusion as the most consistent clinical characteristic. Read More

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A deep learning tool without muscle-by-muscle grading to differentiate myositis from facio-scapulo-humeral dystrophy using MRI.

Diagn Interv Imaging 2022 Mar 12. Epub 2022 Mar 12.

Department of Radiology, Toulouse University Hospital, 31059 Toulouse, Cedex 9, France.

Purpose: The purpose of this study was to assess the capabilities of a deep learning (DL) tool to discriminate between type 1 facioscapulo-humeral dystrophy (FSHD1) and myositis using whole-body muscle magnetic resonance imaging (MRI) examination without the need for visual grading of muscle signal changes.

Materials And Methods: A total of 40 patients who underwent whole-body MRI examination that included T1-weighted and STIR sequences were included. There were 19 patients with proven FSHD1 (9 men, 10 women; mean age, 47. Read More

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Risks and rewards of big-data in epigenomics research: an interview with Melanie Ehrlich.

Melanie Ehrlich

Epigenomics 2022 03 8;14(6):351-358. Epub 2022 Mar 8.

Tulane Cancer Center, Center for Medical Bioinformatics & Genomics, & Hayward Genetics Center, Tulane University, New Orleans, LA 70112, USA.

Melanie Ehrlich, PhD, is a professor in the Tulane Cancer Center, the Tulane Center for Medical Bioinformatics and Genomics and the Hayward Human Genetics Program at Tulane Medical School, New Orleans, LA. She obtained her PhD in molecular biology in 1971 from the State University of New York at Stony Brook and completed postdoctoral research at Albert Einstein College of Medicine in 1972. She has been working on various aspects of epigenetics, starting with DNA methylation, since 1973. Read More

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Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient.

SAGE Open Med Case Rep 2022 28;10:2050313X221081359. Epub 2022 Feb 28.

2nd Department of Obstetrics and Gynaecology, Aretaieion Hospital, University of Athens, Athens, Greece.

Facioscapulohumeral muscular dystrophy is a muscular dystrophy affecting all ages, primarily people in the second decade. The disease is initially presented with face, shoulder girdle, and upper arm involvement, followed by lower extremity muscle weakness. Disease progression is usually slow, although about one-fifth of patients will require a wheelchair to accommodate mobility. Read More

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February 2022

Interplay between mitochondrial reactive oxygen species, oxidative stress and hypoxic adaptation in facioscapulohumeral muscular dystrophy: Metabolic stress as potential therapeutic target.

Redox Biol 2022 05 29;51:102251. Epub 2022 Jan 29.

Randall Centre for Cell and Molecular Biophysics, King's College London, Guy's Campus, London, UK. Electronic address:

Facioscapulohumeral muscular dystrophy (FSHD) is characterised by descending skeletal muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor DUX4, which is linked to oxidative stress, a condition especially detrimental to skeletal muscle with its high metabolic activity and energy demands. Oxidative damage characterises FSHD and recent work suggests metabolic dysfunction and perturbed hypoxia signalling as novel pathomechanisms. Read More

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Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.

Orphanet J Rare Dis 2022 03 2;17(1):96. Epub 2022 Mar 2.

Université Côte d'Azur, Service Système Nerveux Périphérique & Muscle, Centre Hospitalier Universitaire de Nice, Nice, France.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. Read More

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Persistent Fibroadipogenic Progenitor Expansion Following Transient DUX4 Expression Provokes a Profibrotic State in a Mouse Model for FSHD.

Int J Mol Sci 2022 Feb 11;23(4). Epub 2022 Feb 11.

Lillehei Heart Institute, 312 Church St. SE, Minneapolis, MN 55455, USA.

FSHD is caused by loss of silencing of the DUX4 gene, but the DUX4 protein has not yet been directly detected immunohistologically in affected muscle, raising the possibility that DUX4 expression may occur at time points prior to obtaining adult biopsies for analysis, with consequent perturbations of muscle being responsible for disease progression. To test the extent to which muscle can regenerate following DUX4-mediated degeneration, we employed an animal model with reversible DUX4 expression, the iDUX4pA;HSA mouse. We find that muscle histology does recover substantially after DUX4 expression is switched off, with the extent of recovery correlating inversely with the duration of prior DUX4 expression. Read More

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February 2022