A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation:: A clinical and pathological study
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation:: A clinical and pathological study
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DOI：
10.1016/j.nmd.2007.01.017
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发表时间：
2007-04-01
影响因子：
2.8
通讯作者：
Laing, Nigel
中科院分区：
文献类型：
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作者：
Penisson-Besnier, Isabelle;Monnier, Nicole;Laing, Nigel
慢α-原肌球蛋白（TPM 3）基因迄今已与少数情况下，显性和隐性线虫肌病。我们报告的鉴定p.Arg167His突变的四代家庭提出了一个温和的经典形式的疾病。临床上，发病年龄与疾病严重程度之间无相关性。显性阴性p.Arg167His突变是一种复发性突变，以前在一个散发病例中报道。组织学研究显示两份报告之间存在差异。虽然在零星的情况下，II型纤维的优势，我们观察到一个几乎完整的I型纤维的优势。这项研究强调了TPM 3突变的组织病理学表型的变异性。(c)2007 Elsevier B. V.保留所有权利。
The slow alpha-tropomyosin (TPM3) gene has to date been associated with few cases of both dominant and recessive nemaline myopathies. We report the identification of a p.Arg167His mutation in a four-generation family presenting with a mild classical form of the disease. Clinically, there was no correlation between the age at presentation and the severity of the disease. The dominant-negative p.Arg167His mutation is a recurrent mutation, previously reported in one sporadic case. Histological studies showed discrepancy between the two reports. While a type II fibre predominance was described in the sporadic case, we observed an almost complete type I fibre predominance. This study emphasizes the variability in histopathological phenotypes seen with TPM3 mutations. (c) 2007 Elsevier B.V. All rights reserved.