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TPM3基因中的p.Arg168Gly突变是否导致I型纤维发育不全和帽状结构形成?

Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?

作者信息

Fidzianska Anna, Madej-Pilarczyk Agnieszka, Hausmanowa-Petrusewicz Irena

出版信息

Clin Neuropathol. 2014 Jan-Feb;33(1):61-4. doi: 10.5414/NP300657.

Abstract

Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap structures were analyzed in a child with p.Arg168Gly mutation in TPM3 gene. Very narrow myotube-like Type 1 fibers with single nuclei decorated by cap structures seem to be a result of a failure in fusion process and mature fiber formation. Repeated mutations in exon 5 of TPM3 gene giving cap structures may be a different consequence of the loss of specific isoform normally operating in the fusion process and sarcomer formation.

摘要

在一名TPM3基因发生p.Arg168Gly突变的儿童中,分析了先天性纤维类型不均衡伴纤维类型成熟延迟和帽状结构的出现情况。极窄的、类似肌管的单细胞核1型纤维带有帽状结构,这似乎是融合过程和成熟纤维形成失败的结果。TPM3基因外显子5中的重复突变导致帽状结构的出现,可能是在融合过程和肌节形成中正常发挥作用的特定亚型缺失的不同后果。

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