Krasnianski M, Neudecker S, Eger K, Schulte-Mattler W, Zierz S
Klinik und Poliklinik für Neurologie, Martin-Luther-Universität Halle-Wittenberg.
Nervenarzt. 2003 Feb;74(2):151-8. doi: 10.1007/s00115-002-1455-4.
Although the gene for facioscapulohumeral muscular dystrophy (FSHD) has not been identified so far, 4q35 deletion represents a diagnostic marker of the disease. In the present study, 46 consecutive symptomatic patients with 4q35 FSHD deletions or typical FSHD clinical features were evaluated. The patients were divided into three groups: 33 patients (72%) with typical FSHD phenotype and 4q35 FSHD deletion, eight (17%) with atypical (non-Landouzy-Dejerine) FSHD phenotype but with 4q35 FSHD deletion, and five patients (11%) with the typical FSHD phenotype but without FSHD 4q35 deletion. Apparently, the 4q35 deletion is associated not only with Landouzy-Dejerine FSHD but also with a variety of "atypical" FSHD forms. On the other hand, the Landouzy-Dejerine FSHD phenotype is possibly a polyetiological syndrome caused in some patients by other genetic effects than 4q35 deletion.
尽管至今尚未确定面肩肱型肌营养不良症（FSHD）的致病基因，但4q35缺失是该疾病的一个诊断标志物。在本研究中，对46例连续的有4q35 FSHD缺失或典型FSHD临床特征的有症状患者进行了评估。患者被分为三组：33例（72%）具有典型FSHD表型且有4q35 FSHD缺失，8例（17%）具有非典型（非Landouzy-Dejerine型）FSHD表型但有4q35 FSHD缺失，5例（11%）具有典型FSHD表型但无FSHD 4q35缺失。显然，4q35缺失不仅与Landouzy-Dejerine型FSHD有关，还与多种“非典型”FSHD形式有关。另一方面，Landouzy-Dejerine型FSHD表型可能是一种多病因综合征，在一些患者中是由4q35缺失以外的其他基因效应引起的。
