Familial cardioneuromyopathy with hyaline masses and nemaline rods: A novel phenotype
Familial cardioneuromyopathy with hyaline masses and nemaline rods: A novel phenotype
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DOI：
10.1002/ana.10096
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发表时间：
2002-02-01
影响因子：
11.2
通讯作者：
Engel, AG
中科院分区：
文献类型：
--
作者：
Selcen, D;Krueger, BR;Engel, AG
两个兄弟姐妹（患者1和2）有成人发作的肌无力，远端大于近端，以及呼吸功能不全，心肌病和颈椎异常。肌电图研究表明，肌病和神经病变的结果一致。在患者1的三角肌和患者2的胫前肌中，无数的1型纤维含有大的、不规则的多边形的、且大多数为中央透明质块、小空泡和位于透明质块两侧或聚集在肌膜下的线状杆。透明质团强烈嗜中性，对结蛋白、α B-晶体蛋白、α I-抗糜蛋白酶和泛素反应强烈，对凝溶胶蛋白和肌营养不良蛋白反应强烈，缺乏α-辅肌动蛋白、星云蛋白、肌联蛋白和慢肌球蛋白。透明质团中存在泛素、凝溶胶蛋白和断裂的纤维，而不存在星云蛋白、肌联蛋白、α-辅肌动蛋白和慢肌球蛋白，表明非溶酶体蛋白降解。在超微结构上，透明团块由中密度无定形物质组成，混杂有碎片状细丝和不规则分支、多形性、高电子密度物质，类似于肌原纤维性肌病的透明结构。我们的结论是，在这种综合征的病理过程是一个诱导破坏的肌原纤维成分，导致聚集的透明群众的降解残留物，并导致复制的Z盘，导致形成线虫杆。
Two siblings (patients 1 and 2) had adult-onset muscle weakness that was greater distally than proximally, as well as respiratory insufficiency, cardiomyopathy, and cervical spine anomalies. Electromyography studies indicated myopathy and findings consistent with neuropathy in both. In the deltoid muscle of patient 1 and the anterior tibial muscle of patient 2, myriad type 1 fibers harbored large, irregularly polygonal, and mostly central hyaline masses, small vacuoles, and nemaline rods flanking the hyaline masses or congregated under the sarcolemma. The hyaline masses are intensely congophllic; react strongly for desmin, alphaB-crystallin, alphaI-antichymotrypsin, and ubiquitin and variably for gelsolin and dystrophin; and are devoid of alpha-actinin, nebulin, titin, and slow myosin. The presence of ubiquitin, gelsolin, and fragmented filaments, and the absence of nebulin, titin, alpha-actinin, and slow myosin in the hyaline masses, signal non-lysosomal protein degradation. Ultrastructurally, the hyaline masses are composed of intermediate-density amorphous material intermingled with fragmented filaments and irregularly branching, pleomorphic, highly electron-dense material, resembling the hyaline structures of myofibrillar myopathy. We conclude that the pathological process in this syndrome is one that induces destruction of myofibrillar components, resulting in aggregation of the degraded residues in hyaline masses, and causes replication of Z disks, resulting in formation of nemaline rods.