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Muscle contraction results from the force generated between the thin filament protein actin and the thick filament protein myosin, which causes the thick and thin muscle filaments to slide past each other. There are skeletal muscle, cardiac muscle, smooth muscle and non-muscle isoforms of both actin and myosin. Inherited diseases in humans have been(More)
The rates of cell proliferation and of cell loss influence the growth rate of a tumour and reflect genetic changes. We studied proliferation and apoptosis in oligodendrogliomas and their relationship to progression of the tumours. Thirty-two cases of oligodendroglioma were retrieved spanning a 10-year period. The diagnosis and grade were reviewed and(More)
The apolipoprotein E genotype was determined for 11 patients with sporadic inclusion-body myositis. Seven cases had the genotype epsilon 3/epsilon 3, the other four cases, epsilon 3/epsilon 4. The frequency of the epsilon 4 allele in this group of patients (0.182) was not significantly increased compared with elderly controls (0.147; n = 58), in contrast to(More)
The grading and prognostic assessment of oligodendrogliomas is severely constrained and there remains a need for improved diagnosis. Recently, we have identified the minichromosome maintenance (MCM) family of proteins as a novel class of proliferation markers. Mcm2 is a protein which forms part of the prereplicative complex. It is necessary for this complex(More)
OBJECTIVES Cervical spine disorders are common in the older population. The paravertebral muscles are essential to the support and stabilisation of the cervical spine but have been little studied. The aim was to determine whether pathological changes develop in these muscles in patients with severe cervical spine disease, which, if present, might contribute(More)
Three unrelated young children are reported to have suffered since birth from muscle hypotonia and two of them from fatal respiratory insufficiency. Muscle tissues were found to contain large masses of thin myofilaments, immunologically identified as containing actin, but without further morphological features. These masses of thin filaments were found in(More)
Mutations of the p53 tumor suppressor gene have been described in several subtypes of non-Hodgkin's lymphoma, but the incidence of p53 mutations in mantle cell lymphoma (MCL) is unknown. We hypothesized that cases of MCL with a variant or high-grade cytology would have a higher likelihood of p53 mutations than typical MCL. We were also interested in the(More)
The oligodendroglioma has been considered to be a tumour showing oligodendrocyte differentiation, but studies of the expression of oligodendrocyte markers have not conclusively demonstrated this and the pattern of differentiation of this tumour remains uncertain. Recent studies have suggested that some oligodendrogliomas may show neuronal differentiation.(More)
Charcot-Marie-Tooth disease type 4J (CMT4J), a rare form of demyelinating CMT, caused by recessive mutations in the phosphoinositide phosphatase FIG4 gene, is characterised by progressive proximal and distal weakness and evidence of chronic denervation in both proximal and distal muscles. We describe a patient with a previous diagnosis of CMT1 who presented(More)