NEMALINE MYOPATHY TYPE 6: CLINICAL AND MYOPATHOLOGICAL FEATURES
NEMALINE MYOPATHY TYPE 6: CLINICAL AND MYOPATHOLOGICAL FEATURES
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DOI：
10.1002/mus.21788
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发表时间：
2010-12-01
期刊：
影响因子：
3.4
通讯作者：
Sambuughin, Nyamkhishig
中科院分区：
文献类型：
--
作者：
Olive, Montse;Goldfarb, Lev G.;Sambuughin, Nyamkhishig
线状体肌病是最常见的先天性肌病之一。一个独特的亚型，NEM 6，在两个家系中定位于染色体15 q21-q23，但致病基因尚未确定。我们对一个新的NEM家系进行了临床检查和肌肉病理学研究。通过搜索已知的和18个新的候选基因完成基因分型和基因筛选。这种疾病始于儿童时期，影响近端和远端肌肉，导致运动缓慢。肌肉活组织检查显示大量的杆状和核样结构。与染色体15 q22-q23连锁。筛选并排除已知在NEM或核心杆肌病中突变的基因。在其他候选基因中未发现致病性突变。这个西班牙家族的疾病被归类为NEM 6。这是表型相似，可能等位基因的两个先前报道的NEM 6家系。对这些家族的进一步研究将导致NEM 6基因的鉴定。肌肉神经42：901-907，2010
Nemaline myopathy (NEM) is one of the most common congenital myopathies. A unique subtype, NEM6, maps to chromosome 15q21-q23 in two pedigrees, but the causative gene has not been determined. We conducted clinical examination and myopathological studies in a new NEM family. Genotyping and gene screening were accomplished by searching known and 18 new candidate genes. The disease started in childhood by affecting proximal and distal muscles and causing slowness of movements. Muscle biopsies showed numerous nemaline rods and core-like formations. Suggestive linkage to chromosome 15q22-q23 was established. Genes known to be mutated in NEM or core-rod myopathy were screened and excluded. No pathogenic mutations were identified in other candidate genes. The disease in this Spanish family was classified as NEM6. It is phenotypically similar and probably allelic to the two previously reported NEM6 pedigrees. Further studies of these families will lead to the identification of the NEM6 gene. Muscle Nerve 42: 901-907, 2010