Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
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DOI：
10.1016/j.nmd.2010.07.274
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发表时间：
2010-12-01
影响因子：
2.8
通讯作者：
Muntoni, F.
中科院分区：
文献类型：
--
作者：
Munot, P.;Lashley, D.;Muntoni, F.
纤维型比例失调性先天性肌病（CFTD）与ACTA1、SEPN1、RYR1和TPM3基因的突变有关。我们报告了2例具有TPM3杂合突变的无关病例的临床病理和电生理特征。病例1是一名19岁女性，婴儿期出现运动发育迟缓，十几岁时出现呼吸衰竭，尽管能行走，但仍需无创通气，有上睑下垂，轴性肌无力重于近端肌无力，还有脊柱侧凸。病例2是一名7岁男孩，有肌张力低下、进食困难、运动发育迟缓和脊柱侧凸，在能行走的情况下也需要无创通气。两例患者的肌肉活检均显示纤维型比例失调。病例1的肌肉磁共振成像（MRI）显示肌肉内及周围间质组织轻度均匀增多。病例1的TPM3测序显示外显子5存在先前描述的杂合c.503G＞A（p.Arg168His）错义变异，病例2在外显子5存在一种新的杂合错义突变c.521A＞C（p.Glu174Ala）。两例患者的电生理检查均记录到单纤维肌电图有轻度异常。这些病例强调了由TPM3突变导致的CFTD中的神经肌肉传递缺陷。（C）2010爱思唯尔B.V.保留所有权利
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1 SEPN1 RYR1 and TPM3 genes We report the clinico-pathological and electrophysiological features of 2 unrelated cases with heterozygous TPM3 mutation Case1 is a 19-year-old lady who presented with motor delay in Infancy respiratory failure in early teens requiring non-Invasive ventilation despite being ambulant ptosis axial more than proximal weakness and scoliosis Case 2 is a 7-year-old boy with hypotonia feeding difficulties motor delay and scoliosis also requiring non-invasive ventilation while ambulant Muscle biopsies in both cases showed fibre type disproportion Muscle MRI (Case1) showed mild uniformly Increased interstitial tissue in and around the muscles Sequencing of TPM3 in case 1 revealed a previously described heterozygous c 503G > A(pArg168His) missense variant in exon 5 and a novel heterozygous missense mutation c 521A > C(pGlu174Ala) also in exon 5 in case 2 A mild abnormality in the single fibre EMG was documented on electrophysiology in both cases These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations (C) 2010 Elsevier B V All rights reserved