Histopathologic progression and a novel mutation in a child with nemaline myopathy
Histopathologic progression and a novel mutation in a child with nemaline myopathy
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DOI：
10.1177/0883073808314363
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发表时间：
2008-07-01
影响因子：
1.9
通讯作者：
Sivakumar, Kumaraswamy
中科院分区：
文献类型：
--
作者：
Ladha, Shafeeq;Coons, Stephen;Sivakumar, Kumaraswamy
杆状体肌病是一种临床异质性的先天性肌病，由至少6种与细肌丝相关的基因突变引起。从组织学上看，它们呈现出一种具有特征性（即便不是完全一致）的杆状体图像，这对诊断至关重要。然而，对于杆状体肌病肌肉组织病理学变化的发展和进展知之甚少。本文展示了一名因ACTA1基因新突变而患杆状体肌病的儿童在7周龄和15个月龄时的肌肉活检结果。这两次相隔13个月的活检结果显示，从第一次活检中模糊的胞质体进展到第二次活检中的典型杆状体。
Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. Histologically, they show a characteristic if not homogeneous picture of nemaline rods, essential for the diagnosis. However, little is known regarding the development and progression of muscle histopathologic changes in nemaline myopathy. Results Of Muscle biopsies at 7 weeks of age and at 15 months of age from a child with nemaline myopathy due to a novel mutation in the ACTA I gene are presented. The findings of the biopsies, separated by 13 months, demonstrate progression from vague cytoplasmic bodies in the first biopsy to typical nemaline rods in the second biopsy.