Mora M, Moroni I, Uziel G, di Blasi C, Barresi R, Farina L, Morandi L
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico C. Besta, Milano, Italy.
Neuromuscul Disord. 1996 Oct;6(5):377-81. doi: 10.1016/0960-8966(96)00359-8.
We found partial merosin deficiency in a boy presenting at 12 yr with marked limb weakness and a waddling gait. Magnetic resonance imaging (MRI) showed the characteristic white matter abnormalities of merosin-negative congenital muscular dystrophy. There were also peripheral demyelinating polyneuropathy and evoked potential abnormalities. Unlike classic merosin-negative congenital muscular dystrophy, however, our patient was less hypotonic and weak and was able to achieve independent walking. Both by immunohistochemistry and Western blot merosin was shown to be moderately reduced. By immunostaining the alpha 1 laminin chain was overexpressed and beta 1 laminin chain was reduced. A spectrum of clinical phenotypes is likely to become evident in merosin-deficient patients in relation to the discovery of a range of molecular defects in, and variable expression of, this protein.
我们在一名12岁的男孩中发现了部分merosin缺乏症，该男孩表现为明显的肢体无力和蹒跚步态。磁共振成像（MRI）显示了merosin阴性先天性肌营养不良的特征性白质异常。同时还存在周围性脱髓鞘性多发性神经病和诱发电位异常。然而，与经典的merosin阴性先天性肌营养不良不同，我们的患者肌张力减退和肌无力程度较轻，能够独立行走。通过免疫组织化学和蛋白质印迹法均显示merosin中度减少。通过免疫染色发现α1层粘连蛋白链过度表达，β1层粘连蛋白链减少。鉴于发现了该蛋白的一系列分子缺陷和可变表达，merosin缺乏症患者可能会出现一系列临床表型。
