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Mac OS X Lion is Apple's latest operating system based on its. of Mac OS X Snow Leopard, which served as a stop-gap between Mac OS X.Myopathy and mental retardation caused by novel compound heterozygous mutations in MYO18A in a Chinese family.
MYO18A, also known as the myosin-18 family (MYO18A) consists of four human paralogs (myosin-18, myosin-XV, myosin-XVIII, and myosin-XIX) that are putative components of the processive motor protein complex in vertebrate embryonic muscle development. We identified two novel compound heterozygous mutations, namely c.3523A>T p.(Asn1175Ile) and c.5595G>A p.(Gln1832Lys), in the MYO18A gene in a Chinese family with a girl with mental retardation and an adult male with a novel phenotype consisting of proximal myopathy, motor neuron disease with progressive lower limb weakness, and pes cavus. Analysis of muscle biopsies in patients revealed evidence of myopathy with weakness and atrophy of the affected muscles, and electromyography revealed fibrillation potentials and positive sharp waves in the post-exercise period. These symptoms were consistent with myopathy caused by mutations in MYO18A. The mutant c.3523A>T p.(Asn1175Ile) was absent from more than 60,000 alleles in the National Center for Biotechnology Information database, and the mutant c.5595G>A p.(Gln1832Lys) had not been reported previously. Our findings in this family suggest that MYO18A mutations are involved in human neuromuscular disease.As the 3′-end sequence of the mRNA is the target of most translationally controlled messages, it is a common regulator of gene expression. A number of miRNAs that negatively regulate their target genes by either gene silencing or translational repression have been identified 0b46394aab
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