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首页> 外文期刊>Folia neuropathologica >Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy
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Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy

机译：Emery-Dreifuss 2型肌营养不良症（？）与轻度周围性多发性神经病相关

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摘要

In recent years numerous mutations in the LMNA gene encoding lam in A/C were shown to segregate with a wide spectrum of phenotypes. A recurrent p.R377H mutation in the LMNA gene was reported in patients with Emery-Dreifuss dystrophy (EDMD2) with various ethnic backgrounds. We present a patient with EDMD2 caused by a p.R377H mutation, associated with mild peripheral polyneuropathy. The analysis of peripheral myelin protein 22 (PMP22), ganglioside-induced differentiation-associated protein 1 (GDAP1), gap junction beta-1 protein (GJB1), and myelin protein zero (MPZ) genes did not reveal mutations; however, we identified a new sequence intronic variant in the mitofusin 2 (MFN2) gene of unknown pathogenic significance. A complex phenotype in the presented patient might depend either on single mutation in the LMNA gene or on bigenic defect; therefore, a wide genetic investigation is needed to elucidate the molecular background of EDMD2/polyneuropathy in this case.
机译：近年来，在A / C中编码lam的LMNA基因中的许多突变显示出与广泛的表型分离。据报道，患有不同种族背景的金刚砂-Dreifuss营养不良（EDMD2）患者的LMNA基因中出现p.R377H突变。我们介绍了由p.R377H突变引起的EDMD2患者​​，与轻度周围性多发性神经病相关。外周髓磷脂蛋白22（PMP22），神经节苷脂诱导的分化相关蛋白1（GDAP1），间隙连接β-1蛋白（GJB1）和髓磷脂蛋白零（MPZ）基因的分析未发现突变。但是，我们在致病性未知的丝裂霉素2（MFN2）基因中发现了一个新的序列内含子变体。所呈示患者的复杂表型可能取决于LMNA基因的单突变或双基因缺陷。因此，在这种情况下，需要进行广泛的遗传研究以阐明EDMD2 /多发性神经病的分子背景。

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