Faustmann P M, Farahati J, Rupilius B, Dux R, Koch M C, Reiners C
Neurologische Klinik und Poliklinik, Universitätsklinikum der Gesamthochschule Essen, Germany.
J Neurol Sci. 1996 Dec;144(1-2):59-63. doi: 10.1016/s0022-510x(96)00145-1.
Fifteen persons from two consecutive generations of one family affected with facio-scapulo-humeral muscular dystrophy (FSHD) were clinically and neurophysiologically examined. Diagnostic muscle biopsies were obtained from two members. Linkage analysis showed that all four affected members of the family inherit the same 4q35 haplotype giving a lod score of z = +1.44. Six family members were examined by ECG at rest and under stress, by two-dimensional echocardiography, and by cardiac Thallium-201 single-photon-emission computed tomography (Tl-201-SPECT) under dobutamine stress and at rest. Abnormal reduced Tl-201 uptake in cardiac SPECT was only found in the affected members of the family. Therefore we suggest that cardiac Tl-201-SPECT abnormalities in FSHD reflect cardiomyogenic changes in this type of muscular disease.
对一个患有面肩肱型肌营养不良症（FSHD）的家族中连续两代的15名成员进行了临床和神经生理学检查。从两名成员身上获取了诊断性肌肉活检样本。连锁分析表明，该家族的所有四名患病成员都继承了相同的4q35单倍型，对数分数为z = +1.44。对六名家族成员进行了静息和应激状态下的心电图检查、二维超声心动图检查以及在多巴酚丁胺应激和静息状态下的心肌铊-201单光子发射计算机断层扫描（Tl-201-SPECT）检查。仅在该家族的患病成员中发现心肌SPECT中铊-201摄取异常降低。因此，我们认为FSHD患者的心肌Tl-201-SPECT异常反映了这种肌肉疾病中的心肌源性变化。
