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 +11 more sources
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 +11 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 +5 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 +8 more sources
Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo. [PDF]
Hum Mol Genet, 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.
Viswanathan MC +6 more
europepmc +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]
GeneticsMyosin 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.
Viswanathan MC +7 more
europepmc +5 more sources
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. [PDF]
Proc Natl Acad Sci U S A, 2009 Myosin storage myopathy (MSM) is a congenital myopathy characterized by the presence of subsarcolemmal inclusions of myosin in the majority of type I muscle fibers, and has been linked to 4 mutations in the slow/cardiac muscle myosin, β-MyHC (MYH7). Although the majority of the >230 disease causing mutations in MYH7 are located in the globular head ...
Armel TZ, Leinwand LA.
europepmc +5 more sources
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
Neuromuscular Disorders, 2011 This study aimed to identify the genetic defect in a multigenerational family presenting an autosomal dominant myopathy with histological features of congenital fiber type disproportion. Linkage analysis and genetic sequencing identified, in all affected members of the family, the c.5807A>G heterozygous mutation in MYH7, which encodes the slow/β ...
S. Ortolano +13 more
semanticscholar +5 more sources
Myosinopathies: pathology and mechanisms [PDF]
Acta Neuropathologica, 2012 The myosin heavy chain (MyHC) is the molecular motor of muscle and forms the backbone of the sarcomere thick filaments. Different MyHC isoforms are of importance for the physiological properties of different muscle fiber types.
H. Tajsharghi, A. Oldfors
core +2 more sources
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 +2 more sources