Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene:: Clinical and pathological variability within a kindred
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene:: Clinical and pathological variability within a kindred
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DOI：
10.1016/j.nmd.2005.11.004
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发表时间：
2006-02-01
影响因子：
2.8
通讯作者：
North, KN
中科院分区：
文献类型：
--
作者：
Hutchinson, DO;Charlton, A;North, KN
伴核内杆的线状肌病是线状肌病的一种罕见变异，几乎所有病例都是由于编码骨骼肌α-肌动蛋白的ACTA1基因突变所致。我们描述了新的常染色体显性发生在一个三代家系中，并回顾了以前报道的病例。我们家系的肌病症状起病于婴儿期或儿童期早期。除了婴儿期，四肢肌肉无力不是致残性的，而且是轻微进行性的。高而瘦的脸和面部肌病是受影响成年人的显著特征。在光镜下，肌肉活检的范围从几乎正常到肌浆和核内杆的慢性肌病。ACTA1基因第4外显子存在GTG-ATG杂合性突变(Val163Met)。肌动蛋白通常仅以微量形式存在于细胞核内。163位突变可能导致核内杆，因为它非常接近肌动蛋白分子内的核输出信号。(C)2005 Elsevier B.V.保留所有权利。
Nemaline Myopathy with Intranuclear Rods is a rare variant of nemaline myopathy, due in almost all instances to mutation of ACTA1, the gene encoding skeletal muscle alpha-actin. We describe the novel autosomal dominant occurrence in a three-generation kindred, and review previously reported cases. Onset of myopathic symptoms in our kindred was in infancy or early childhood. Beyond infancy, limb muscle weakness was non-disabling and minimally progressive. A tall thin face and facial myopathy were prominent features in the affected adults. By light microscopy, muscle biopsies ranged from almost normal, to chronic myopathy with sarcoplasmic and intranuclear rods. A heterozygous GTG-ATG mutation (Val163Met) was found in exon 4 of ACTA1 in affected individuals. Actin is normally present within the nucleus in only trace amounts. Mutation at postion 163 may result in intranuclear rods by virtue of its close proximity to a nuclear export signal within the actin molecule. (C) 2005 Elsevier B.V. All rights reserved.