先天性肌强直症 6 型：临床和肌病理特征。
Nemaline myopathy type 6: clinical and myopathological features.
机构信息
Institute of Neuropathology, Pathology Department, IDIBELL-Hospital de Bellvitge and CIBERNED, Hospitalet de Llobregat, Feixa Llarga s/n, Hospitalet de Llobregat, Barcelona 08907, Spain.
出版信息
Muscle Nerve. 2010 Dec;42(6):901-7. doi: 10.1002/mus.21788.
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.
先天性肌营养不良症（NEM）是最常见的先天性肌病之一。有一种独特的亚型，即 NEM6，在两个家系中定位于 15q21-q23 染色体，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病理研究。通过搜索已知和 18 个新的候选基因进行基因分型和基因筛选。疾病始于儿童时期，影响近端和远端肌肉，导致运动缓慢。肌肉活检显示大量的杆状体和核心样形成。建立了与 15q22-q23 染色体的提示性连锁关系。筛选并排除了已知在 NEM 或核心-杆状肌病中发生突变的基因。在其他候选基因中未发现致病性突变。该西班牙家族的疾病被归类为 NEM6。它在表型上与之前报道的两个 NEM6 家系相似，可能是等位基因。对这些家族的进一步研究将有助于确定 NEM6 基因。
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