Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
复制标题
DOI：
10.1002/humu.21157
复制
发表时间：
2010-02
期刊：
影响因子：
3.9
通讯作者：
Beggs, Alan H.
中科院分区：
文献类型：
--
作者：
Lawlor, Michael W.;DeChene, Elizabeth T.;Roumm, Emily;Geggel, Amelia S.;Moghadaszadeh, Behzad;Beggs, Alan H.
关键词：
先天性纤维型失调（CFTD）是一种罕见的先天性肌病，其特征是张力低下和全身肌肉无力。在没有其他明显病理表现的情况下，CFTD的病理诊断是基于至少12%的1型纤维萎缩。在一小部分CFTD病例中发现了ACTA1和SEPN1基因突变。肌原肌球蛋白3基因TPM3在罕见的线状肌病病例中发生突变，这些病例通常表现为1型纤维萎缩伴线状棒，最近发现TPM3基因突变也可导致CFTD。我们在临床诊断为CFTD、线状肌病和不明先天性肌病的患者中筛选TPM3基因。13例CFTD患者中的6例以及1例线状肌病患者中发现了TPM3突变。对诊断为CFTD的患者的肌肉活检的回顾显示，TPM3突变的患者都表现出明显的纤维大小失调，没有1型纤维优势。一些突变阴性的病例表现出其他异常，如中央核和中央核。这些结果支持了CFTD诊断在指导基因检测过程中的效用。
Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases. The muscle tropomyosin 3 gene, TPM3, is mutated in rare cases of nemaline myopathy that typically exhibit type 1 fiber hypotrophy with nemaline rods, and recently mutations in the TPM3 gene were also found to cause CFTD. We screened the TPM3 gene in patients with a clinical diagnosis of CFTD, nemaline myopathy, and with undefined congenital myopathies. Mutations in TPM3 were identified in 6 out of 13 patients with CFTD, as well as in one case of nemaline myopathy. Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance. Several mutation-negative cases exhibited other abnormalities, such as central nuclei and central cores. These results support the utility of the CFTD diagnosis in directing the course of genetic testing.
登录
查看更多内容
DOI：
10.1097/nen.0b013e318183a44f
发表时间：
2008-09-01
影响因子：
3.2
作者：
Ilkovski, Biljana;Mokbel, Nancy;Cooper, Sandra T.
通讯作者：
Cooper, Sandra T.
影响因子：
9.9
作者：
Ryan, MM;Ilkovski, B;Beggs, AH
通讯作者：
Beggs, AH
DOI：
10.1093/jnen/62.10.977
发表时间：
2003-10-01
影响因子：
3.2
作者：
Clarke, NF;North, KN
通讯作者：
North, KN
影响因子：
11.2
作者：
Laing, NG;Clarke, NF;Nonaka, I
通讯作者：
Nonaka, I
影响因子：
2.8
作者：
Penisson-Besnier, Isabelle;Monnier, Nicole;Laing, Nigel
通讯作者：
Laing, Nigel