Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells. [PDF]
PLoS ONE, 2017 Myosin storage myopathy is a protein aggregate myopathy associated with the characteristic subsarcolemmal accumulation of myosin heavy chain in muscle fibers.
Martin Dahl-Halvarsson +4 more
doaj +16 more sources
Impaired muscle morphology in a Drosophila model of myosin storage myopathy was suppressed by overexpression of an E3 ubiquitin ligase [PDF]
Disease Models & Mechanisms, 2020 Myosin is vital for body movement and heart contractility. Mutations in MYH7, encoding slow/β-cardiac myosin heavy chain, are an important cause of hypertrophic and dilated cardiomyopathy, as well as skeletal muscle disease. A dominant missense mutation (
Martin Dahl-Halvarsson +5 more
doaj +9 more sources
A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy [PDF]
BMC Cardiovascular Disorders, 2023 Background The MYH7 gene, which encodes the slow/ß-cardiac myosin heavy chain, is mutated in myosin storage myopathy (MSM). The clinical spectrum of MSM is quite heterogeneous in that it ranges from cardiomyopathies to skeletal myopathies or a ...
Niloofar Naderi +5 more
doaj +4 more sources
A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report [PDF]
BMC Medical Genetics, 2019 Background Few manuscripts have reported phenotypes of skeletal muscle myopathies caused by mutations in the head region of slow/cardiac beta-myosin heavy chain (MyHCI).
Jean Mamelona +5 more
doaj +5 more sources
Dominant Myosin Storage Myopathy Mutations Disrupt Striated Muscles in Drosophila and the Myosin Tail-Tail Interactome of Human Cardiac Thick Filaments [PDF]
GeneticsAbstract Myosin storage myopathy (MSM) is a rare skeletal muscle disorder caused by mutations in the slow muscle/β-cardiac myosin heavy chain (MHC) gene. MSM missense mutations frequently disrupt the tail's stabilizing heptad repeat motif.
Sanford Bernstein +2 more
exaly +7 more sources
Myosin Storage Myopathy Mutations Yield Defective Myosin Filament Assembly in Vitro and Disrupted Myofibrillar Structure and Function in Vivo [PDF]
Human Molecular Genetics, 2017 Myosin storage myopathy (MSM) is a congenital skeletal muscle disorder caused by missense mutations in the β-cardiac/slow skeletal muscle myosin heavy chain rod. It is characterized by subsarcolemmal accumulations of myosin that have a hyaline appearance.
Sanford Bernstein +2 more
exaly +5 more sources
Smoking cessation, depression, and Myosin Storage Myopathy. Case report
Tobacco Prevention and Cessation, 2018 Introduction We report the evaluation and psychological intervention to quit smoking of a 41-year-old male with depression and Myosin Storage Myopathy (MSM) caused by a genetic mutation in MYH7. MSM is a congenital skeletal muscle disorder which the main
Carmela Martínez-Vispo +2 more
doaj +2 more sources
Molecular screening of lfs and pssm-i diseases in arabian horse population in turkey [PDF]
Kafkas Universitesi Veteriner Fakültesi Dergisi, 2017 Polysaccharide Storage Myopathy (PSSM) and Lavender Foal Syndrome (LFS) are inherited diseases in horse. PSSM-I, a point mutation in Glycogen Synthase-1 gen (GYS1) causes increased activation of the enzyme and abnormal polysaccharides formation.
BİLGEN N +3 more
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BMC Medical Genetics, 2017 Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies.
Zsolt Bánfai +6 more
doaj +1 more source
Stem Cell ResearchVariants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs.
Joshua S. Clayton +10 more
doaj +1 more source