The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
复制标题
结蛋白病谱的扩大：新的形态学发现、向东地理传播、新的外显子 3 结蛋白突变。
DOI：
10.1007/s00401-005-0980-1
复制
发表时间：
2005
影响因子：
12.7
通讯作者：
Goebel,HansH
中科院分区：
文献类型：
--
作者：
Vrabie,Alexandra;Goldfarb,LevG;Shatunov,Alexey;Nagele,Andrea;Fritz,Peter;Kaczmarek,Ingo;Goebel,HansH
一名52岁的男子，腿部和手臂的远端肌肉无力，被发现有远端肌肉萎缩和心律失常。他10岁的弟弟在20岁时患上了限制性心肌病，需要在41岁时进行心脏移植。哥哥的骨骼肌活检标本显示颗粒膜物质和含有大量蛋白质的斑块，最重要的是结蛋白，心脏活检组织也是如此。弟弟移植的心脏在心肌细胞内显示类似的富含蛋白质的斑块和颗粒膜物质。在其兄长中发现一种新的结蛋白基因(DES)外显子3 2q35杂合性Glu245Asp(E245D)错义突变。虽然哥哥的临床数据和肌肉活检病理符合结缔组织病的病因谱，但早发性心肌病、与骨骼肌组织相似的心脏病理以及DES基因的新错义突变，扩大了结缔组织病的病因谱。
A 52-year-old man, who had developed distal muscle weakness in legs and arms, was found to have distal muscle atrophy as well as cardiac arrhythmia. His 10-year younger brother developed restrictive cardiomyopathy at the age of 20 years, which required cardiac transplantation at the age of 41 years. Skeletal muscle biopsy specimens of the older brother revealed granulofilamentous material and plaques containing numerous proteins, foremost desmin, as did cardiac biopsy tissue. The explanted heart of the younger brother showed similar protein-rich plaques and granulofilamentous material within cardiac myocytes. A novel heterozygous Glu245Asp (E245D) missense mutation in exon 3 of the desmin gene (DES) at 2q35 was found in the older brother. While clinical data and muscle biopsy pathology of the older brother conform to the nosological spectrum of desminopathies, the early-onset cardiomyopathy, a similar cardiac pathology as in skeletal muscle tissues and a novel missense mutation in theDESgene, enlarge the nosological spectrum of desminopathies.