Intranuclear nemaline rod myopathy
Intranuclear nemaline rod myopathy
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DOI：
10.1002/mus.20521
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发表时间：
2006-09-01
期刊：
影响因子：
3.4
通讯作者：
Nixon, Randal
中科院分区：
文献类型：
--
作者：
Kaimaktchiev, Vassil;Goebel, Hans;Nixon, Randal
临床，病理和遗传的结果与核内杆状体肌病的男孩进行了描述。连续肌肉活检显示肌细胞核含有α-辅肌动蛋白免疫反应阳性的包涵体，并随年龄增加。遗传分析显示Val 163 Leu ACTA 1突变先前与杆状体肌病相关。虽然最初被推迟，但他已经达到了所有里程碑，并保持稳定。这些发现表明核内视杆细胞可能随时间增加，并不一定意味着预后不良。
The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for a-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.