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Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases
Neurology, 2005Myosin storage myopathy is a congenital myopathy characterized by subsarcolemmal hyaline bodies in type 1 muscle fibers, which are ATPase positive and thus contain myosin. Mutations recently were identified in the type 1 muscle fiber myosin gene (MYH7) in Swedish and Saudi families with myosin storage myopathy.
N. Laing +9 more
semanticscholar +4 more sources
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
Neuromuscular Disorders, 2007In order to characterize, at the clinical, molecular and imaging level, myopathies due to MYH7 gene mutations, MYH7 gene analysis was conducted by RT-PCR/SSCP/sequencing in two patients diagnosed with myosin storage myopathy and 17 patients diagnosed with scapulo-peroneal myopathy of unknown etiology.
E. Pegoraro +7 more
semanticscholar +4 more sources
Scoliosis surgery in a patient with “de novo” myosin storage myopathy
Neuromuscular Disorders, 2011Myosin storage myopathy is a rare neuromuscular disorder, characterized by subsarcolemmal inclusions exclusively in type I skeletal muscle fibers, known as hyaline bodies. Its clinical spectrum is diverse, as are its modes of inheritance. Myosin storage myopathy, also called hyaline body myopathy, is caused by a pathogenic mutation in the MYH7 gene ...
X. Stalpers +5 more
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Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred
Neuromuscular Disorders, 2006Myosin storage myopathy (OMIM 608358), a congenital myopathy characterised by subsarcolemmal, hyaline-like accumulations of myosin in Type I muscle fibres, was first described by Cancilla and Colleagues in 1971 [Neurology 1971;21:579-585] in two siblings as 'familial myopathy with probable lysis of myofibrils in type I muscle fibres'.
D. Dye +3 more
semanticscholar +3 more sources
Myosin storage (hyaline body) myopathy: A case report
Neuromuscular Disorders, 2006Myosin storage myopathy/hyaline body myopathy is a rare congenital myopathy, with less than 30 cases reported in the literature. It is characterised by the presence of subsarcolemmal hyaline bodies in type 1 muscle fibres and predominantly proximal muscle weakness.
M. Shingde +7 more
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Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
Annals of Neurology, 2003AbstractMyosin constitutes the major part of the thick filaments in the contractile apparatus of striated muscle. MYH7 encodes the slow/β‐cardiac myosin heavy chain (MyHC), which is the main MyHC isoform in slow, oxidative, type 1 muscle fibers of skeletal muscle. It is also the major MyHC isoform of cardiac ventricles.
H. Tajsharghi +5 more
semanticscholar +3 more sources
Neuromuscular Disorders, 2015
Myosin storage myopathy (MSM) is a protein aggregate myopathy caused by the accumulation of myosin in muscle fibres and results from MYH7 mutation. Although MYH7 mutation is also an established cause of variable cardiomyopathy with or without skeletal myopathy, cardiomyopathy with MSM is a rare combination.
Nur Yüceyar +3 more
semanticscholar +5 more sources
Myosin storage myopathy (MSM) is a protein aggregate myopathy caused by the accumulation of myosin in muscle fibres and results from MYH7 mutation. Although MYH7 mutation is also an established cause of variable cardiomyopathy with or without skeletal myopathy, cardiomyopathy with MSM is a rare combination.
Nur Yüceyar +3 more
semanticscholar +5 more sources
Neuromuscular Disorders, 2009
Myosin Storage Myopathies (MSM) have emerged as a new group of inherited myopathies with heterogenous clinical severity and age of onset. We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mutation has already been reported to be associated with MSM presenting as neonatal hypotony. Our index case complained of proximal
E. Uro-Coste +7 more
semanticscholar +3 more sources
Myosin Storage Myopathies (MSM) have emerged as a new group of inherited myopathies with heterogenous clinical severity and age of onset. We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mutation has already been reported to be associated with MSM presenting as neonatal hypotony. Our index case complained of proximal
E. Uro-Coste +7 more
semanticscholar +3 more sources
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies].
Fortschritte der Neurologie-Psychiatrie, 2010Myopathies with pathological protein aggregates comprise a numerically significant group of sporadic and hereditary muscle disorders. A rare disease entity within the group of protein aggregate myopathies is the myosin storage myopathy, which is caused by heterozygous mutations in the MYH7 gene which encodes the slow/beta-myosin heavy chain.
I. Kiphuth +6 more
semanticscholar +3 more sources