From channel mutation to neuropathy
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چکیده
Bend it, shape it, remember it Shape-memory alloys have the useful property of returning to their original shape after being greatly deformed. This process depends on the collective behavior of many small mineral grains in the metal. Using threedimensional x-ray diffraction, Sedmák et al. tracked over 15,000 grains in a nickel-titanium shape-memory alloy as it moved through this transformation, thus linking microscopic changes to the bulk deformation. —BG Science, this issue p. 559
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Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy
Objective(s): Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to fin...
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