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We have studied a family segregating a form of autosomal dominant distal myopathy (MIM 160500) and containing nine living affected individuals. The myopathy in this family is closest in clinical phenotype to that first described by Gowers in 1902. A search for linkage was conducted using microsatellite, VNTR, and RFLP markers. In total, 92 markers on all 22(More)
Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of alpha-actinin and actin. We have identified a missense mutation in the alpha-tropomyosin gene, TPM3, which segregates completely with the disease in a family whose autosomal dominant nemaline myopathy we had previously(More)
OBJECTIVES To determine the molecular basis for autosomal dominant intermediate hereditary motor and sensory neuropathy (HMSN) in a four generation family. The gene defects in families with intermediate HMSN are not known, but it has been suggested that most have X linked HMSN. METHODS All participating family members were examined clinically. Genomic DNA(More)
A thermodynamically equilibrated fluid of hard spheroids is a simple model of liquid matter. In this model, the coupling between the rotational degrees of freedom of the constituent particles and their translations may be switched off by a continuous deformation of a spheroid of aspect ratio t into a sphere (t=1). We demonstrate, by experiments, theory, and(More)
We present a computer simulation study on crystal nucleation and growth in supersaturated suspensions of mono-disperse hard spheres induced by a triangular lattice substrate. The main result is that compressed substrates are wet by the crystalline phase (the crystalline phase directly appears without any induction time), while for stretched substrates we(More)
A sequence tagged site (STS) was developed for the human beta tropomyosin gene (TPM2). The STS was used to amplify DNA from somatic cell hybrids to localise TPM2 to human chromosome 9. Genomic clones isolated with the STS product were in turn used in fluorescence in situ hybridisation to metaphase chromosome spreads to further localise TPM2 to 9p13.
Entropy production is one of the most important characteristics of nonequilibrium steady states. We study here the steady-state entropy production, both at short times as well as in the long-time limit, of two important classes of nonequilibrium systems: transport systems and reaction-diffusion systems. The usefulness of the mean entropy production rate and(More)
We study fluctuations in diffusion-limited reaction systems driven out of their stationary state. Using a numerically exact method, we investigate fluctuation ratios in various systems which differ by their level of violation of microscopic time reversibility. Studying a quantity that for an equilibrium system is related to the work done to the system, we(More)