Van den Bergh Peter Y K, Bouquiaux Olivier, Verellen Christine, Marchand Sylvie, Richard Isabelle, Hackman P, Udd Bjarne
Centre de Référence Neuromusculaire, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium.
Ann Neurol. 2003 Aug;54(2):248-51. doi: 10.1002/ana.10647.
We report a Belgian family with autosomal dominant, late-onset, distal myopathy with selective foot extensor muscle involvement of the lower legs. Linkage to the tibial muscular dystrophy (TMD) locus 2q31 was not evident at first because of incomplete disease penetrance in a 50-year-old asymptomatic family member. An abnormal tibialis anterior muscle biopsy established her subclinical status and linkage of the family to the TMD locus. Mutation analysis showed a disease-specific, heterozygous point mutation in the last exon, Mex6, of the titin gene. This is the third mutation found in TMD and the second European family with TMD outside the Finnish population, suggesting that titinopathies may occur in various populations.
我们报告了一个比利时家族，该家族患有常染色体显性、迟发性、远端肌病，小腿选择性足背伸肌受累。最初，由于一名50岁无症状家族成员的疾病外显不全，与胫骨肌营养不良（TMD）基因座2q31的连锁关系并不明显。异常的胫前肌活检确定了她的亚临床状态以及该家族与TMD基因座的连锁关系。突变分析显示，肌联蛋白基因最后一个外显子Mex6存在疾病特异性杂合点突变。这是在TMD中发现的第三个突变，也是芬兰人群以外第二个患有TMD的欧洲家族，提示肌联蛋白病可能在不同人群中发生。
