Astejada M N, Goto K, Nagano A, Ura S, Noguchi S, Nonaka I, Nishino I, Hayashi Y K
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Acta Myol. 2007 Dec;26(3):159-64.
Mutations in the genes for nuclear envelope proteins of emerin (EMD) and lamin A/C (LMNA) are known to cause Emery-Dreifuss muscular dystrophy (EDMD) and limb girdle muscular dystrophy (LGMD). We compared clinical features of the muscular dystrophy patients associated with mutations in EMD (emerinopathy) and LMNA (laminopathy) in our series. The incidence of laminopathy was slightly higher than that of emerinopathy. The age at onset of the disease in emerinopathy was variable and significantly older than in laminopathy. The initial symptom of emerinopathy was also variable, whereas nearly all laminopathy patients presented initially with muscle weakness. Calf hypertrophy was often seen in laminopathy, underscoring the importance of mutation screening for LMNA in childhood muscular dystrophy with calf hypertrophy. The clinical spectrum of emerinopathy is actually wider than previously known including EDMD, LGMD, conduction defects with minimal muscle/joint involvement, and their intermittent forms. Pathologically, no marked difference was observed between emerinopathy and laminopathy. Increased number and variation in size of myonuclei were detected. More precise observations using electron microscopy is warranted to characterize the detailed nuclear changes in nuclear envelopathy.
已知核纤层蛋白A/C（LMNA）和emerin（EMD）等核膜蛋白基因的突变会导致埃默里-德赖富斯肌营养不良症（EDMD）和肢带型肌营养不良症（LGMD）。我们比较了本系列中与EMD突变（emerin病）和LMNA突变（核纤层蛋白病）相关的肌营养不良患者的临床特征。核纤层蛋白病的发病率略高于emerin病。emerin病的发病年龄各不相同，且明显高于核纤层蛋白病。emerin病的初始症状也各不相同，而几乎所有核纤层蛋白病患者最初都表现为肌无力。核纤层蛋白病常可见小腿肥大，这突出了对伴有小腿肥大的儿童肌营养不良症进行LMNA突变筛查的重要性。emerin病的临床谱实际上比以前所知的更广泛，包括EDMD、LGMD、肌肉/关节受累最小的传导缺陷及其间歇性形式。在病理上，emerin病和核纤层蛋白病之间未观察到明显差异。检测到肌核数量增加和大小变异。有必要使用电子显微镜进行更精确的观察，以表征核膜病中详细的核变化。
