Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. [PDF]
, 2015 BackgroundFacioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35.
Arne-Bes, M.C. +22 more
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miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies [PDF]
, 2015 International audienceBackground :Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD are already expressed in fetal
Butler-Browne, Gillian +11 more
core +9 more sources
Crystal Structure of the Double Homeodomain of DUX4 in Complex with DNA
Cell Reports, 2018 Summary: Double homeobox (DUX) transcription factors are unique to eutherian mammals. DUX4 regulates expression of repetitive elements during early embryogenesis, but misexpression of DUX4 causes facioscapulohumeral muscular dystrophy (FSHD) and ...
John K. Lee +9 more
doaj +1 more source
Nature Communications, 2021 Facioscapulohumeral muscular dystrophy is a myopathy caused by aberrant de-repression of the DUX4 gene. Here, the authors show that miR-675 inhibits DUX4 expression and protects muscles from DUX4-mediated cell death when administered to mice using AAV ...
Nizar Y. Saad +7 more
doaj +1 more source
FSHD muscular dystrophy Region Gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis [PDF]
, 2013 Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD
Bortolanza S +9 more
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Facioscapulohumeral muscular dystrophy: a review of pathogenesis, clinical symptoms, and treatment
Neurologijos seminarai, 2023 Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy characterised by weakness of the face, scapula, upper arm, and other muscles.
T. Mikalauskas, B. Burnytė
doaj +3 more sources
A Pediatric Review of Facioscapulohumeral Muscular Dystrophy [PDF]
Journal of Pediatric Neurology, 2017 AbstractFacioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of DUX4 in skeletal muscles.
Yi-Wen Chen, Jean K. Mah
openaire +2 more sources
The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, 2021 Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller +4 more
doaj +1 more source
Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies
Biomedicines, 2022 Muscular dystrophies (MDs) are a heterogeneous group of congenital neuromuscular disorders whose clinical signs include myalgia, skeletal muscle weakness, hypotonia, and atrophy that leads to progressive muscle disability and loss of ambulation.
Arlek González-Jamett +5 more
doaj +1 more source
Changes in pain-related beliefs, coping, and catastrophizing predict changes in pain intensity, pain interference, and psychological functioning in individuals with myotonic muscular dystrophy and facioscapulohumeral dystrophy [PDF]
, 2011 The primary aim of this study was to test hypothesized associations between changes in psychological variables (i.e., pain beliefs, catastrophizing and coping strategies) and changes in pain intensity and related adjustment (i.e., pain interference and ...
Jensen, Mark P. +3 more
core +1 more source