突变
基因亚型
生物
外显子
纤维
发育不良
基因
遗传学
分子生物学
解剖
化学
有机化学
作者
Anna Fidziańska,Agnieszka Madej‐Pilarczyk,I Hausmanowa-Pétrusewicz
摘要
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.
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