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Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
Nemaline myopathy, the most common congenital myopathy, is caused by mutations in genes encoding thin filament and thin filament-associated proteins in skeletal muscles. Severely affected patientsExpand
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Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle alpha-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased gamma-filamin,Expand
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Mechanisms underlying intranuclear rod formation.
Specific mutations within the alpha-skeletal actin gene (ACTA1) result in intranuclear rod myopathy (IRM), characterized by rod-like aggregates containing actin and alpha-actinin-2 inside the nucleusExpand
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An αtropomyosin mutation alters dimer preference in nemaline myopathy
Nemaline myopathy is a human neuromuscular disorder associated with muscle weakness, Z‐line accumulations (rods), and myofibrillar disorganization. Disease‐causing mutations have been identified inExpand
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Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness
Mutations in the α‐skeletal actin gene (ACTA1) result in a variety of inherited muscle disorders characterized by different pathologies and variable clinical phenotypes. Mutations at Val163 in ACTA1Expand
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In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies
Rods are the pathological hallmark of nemaline myopathy, but they can also occur as a secondary phenomenon in other disorders, including mitochondrial myopathies such as complex I deficiency. TheExpand
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Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy
The mechanism of muscle weakness was investigated in an Australian family with an M9R mutation in TPM3 (&agr;-tropomyosinslow). Detailed protein analyses of 5 muscle samples from 2 patients showedExpand
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Cap disease due to mutation of the beta-tropomyosin gene (TPM2)
Cap disease or cap myopathy is a form of congenital myopathy in which peripheral, well-demarcated 'caps' of disorganised thin filaments are seen in muscle fibres. Mutation of the TPM2 gene, thatExpand
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A 12-Year Retrospective Study of Invasive Amoebiasis in Western Sydney: Evidence of Local Acquisition
In Australia, amoebiasis is thought to occur in travellers, immigrants from endemic areas, and among men who have sex with men. Prevalence of amoebiasis in communities with immigrants from EntamoebaExpand
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An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
Nemaline myopathy is a human neuromuscular disorder associated with muscle weakness, Z-line accumulations (rods), and myofibrillar disorganization. Disease-causing mutations have been identified inExpand
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