Tajsharghi Homa, Ohlsson Monica, Lindberg Christopher, Oldfors Anders
Department of Pathology, Sahlgrenska University Hospital, S-413 45 Göteborg, Sweden.
Arch Neurol. 2007 Sep;64(9):1334-8. doi: 10.1001/archneur.64.9.1334.
To describe the clinical, morphologic, and genetic findings in a family in which one woman had nemaline myopathy, whereas her daughter showed features of cap disease.
A 66-year-old woman and her 35-year-old daughter had congenital, slowly progressive muscle weakness. They had weakness in both proximal and distal muscles and facial diplegia with bilateral ptosis, a long narrow face, a high arched palate, and micrognathia.
Muscle biopsy specimens in the mother at age 57 years had shown nemaline myopathy, whereas a biopsy specimen at age 32 years had demonstrated no rods. Muscle biopsy specimens in the daughter at age 26 years had shown features of cap disease and no apparent nemaline rods. A missense mutation, Glu41Lys, in the beta-tropomyosin gene TPM2 was identified in both patients but was absent in their healthy relatives.
The results indicate that mutations in TPM2 may cause nemaline myopathy as well as cap disease with a dominant mode of inheritance. These disorders may thus be phenotypic variants of the same genetic defect.
描述一个家庭中的临床、形态学和遗传学发现，该家庭中一名女性患有杆状体肌病，而她的女儿表现出帽状病的特征。
一名66岁女性及其35岁女儿患有先天性、缓慢进展的肌肉无力。她们近端和远端肌肉均无力，伴有双侧上睑下垂的面部双侧瘫、长窄脸、高拱腭和小颌。
母亲57岁时的肌肉活检标本显示为杆状体肌病，而32岁时的活检标本未显示杆状体。女儿26岁时的肌肉活检标本显示出帽状病的特征，且无明显的杆状体。在两名患者中均鉴定出β-原肌球蛋白基因TPM2中的一个错义突变Glu41Lys，但其健康亲属中不存在该突变。
结果表明，TPM2突变可能导致杆状体肌病以及具有显性遗传模式的帽状病。因此，这些疾病可能是同一基因缺陷的表型变异。
