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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.
Nigel G Laing +2 more
exaly +3 more sources
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'.
Nigel G Laing +2 more
exaly +3 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 ...
Nicolas Levy +2 more
exaly +5 more sources
Myosin Storage Myopathy With Cardiomyopathy
Neuromuscular Disorders, 2007Homa Tajsharghi +2 more
exaly +2 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
Emmanuelle Uro-Coste +2 more
exaly +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
Emmanuelle Uro-Coste +2 more
exaly +3 more sources
Recessive Myosin Myopathy With External Ophthalmoplegia Associated With MYH2 Mutations
European Journal of Human Genetics, 2014 Myosin myopathies comprise a group of inherited diseases caused by mutations in myosin heavy chain (MyHC) genes. Homozygous or compound heterozygous truncating MYH2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild ...
Homa Tajsharghi +2 more
exaly +2 more sources
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy
Neurology, 2007Myosin storage myopathy (MSM) associated with mutations in MYH7 encoding for slow/β-cardiac myosin heavy chain (MyHC) occurs sporadically or shows autosomal dominant inheritance.1–4 MSM is usually associated with severe skeletal muscle weakness, but cardiomyopathy is typically not present.
Homa, Tajsharghi +3 more
openaire +2 more sources
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.
Laing, N.G. +9 more
openaire +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 C, Kiphuth +6 more
openaire +1 more source