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首页> 外文期刊>Clinical Genetics: An International Journal of Genetics in Medicine >Addendum to 'recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders'.
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Addendum to 'recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders'.

机译:附录“远端遗传性运动神经病的遗传学的最新进展使人们了解了涉及铜稳态的疾病机制,该机制可能会扩展到其他运动神经元疾病。”

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Within our manuscript entitled 'Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders' published in Clin Genet 2011: 79: 23-34, we assembled a table that listed known distal hereditary motor neuropathies (dHMN) loci, and identified causal genes, to highlight (i) the genetic heterogeneity of dHMN and (ii) the causative dHMN genes of which the encoded proteins' function was discussed in the manuscript. We acknowledge that a locus, discovered in 2008 by Muglia et al. in an Italian family with an autosomal dominant form of dHMN with pyramidal features (causative gene yet to be identified), was overlooked and left out from that published table. We have now updated Table 1 and that of the authors who identified the locus.
机译:在《临床遗传学》(Clin Genet)2011:79:23-34中发表的题为“远端遗传性运动神经病的遗传学的最新进展提供了一种涉及铜稳态的疾病机制的见解,该疾病机制可能扩展到其他运动神经元疾病的见解”中,我们整理了一张表格列出了已知的远端遗传性运动神经病(dHMN)基因座,并鉴定了病因基因,以突出显示(i)dHMN的遗传异质性,以及(ii)在文件中讨论了其编码蛋白功能的病因性dHMN基因。我们承认,Muglia等人在2008年发现了一个基因座。在一个意大利家庭中,其常染色体显性遗传形式的dHMN具有金字塔形特征(致病基因尚未确定),被忽略并从该公开表格中删除。现在,我们更新了表1和确定了基因座的作者的表。

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