Udd B
Neurological Unit, Vasa Central Hospital, Finland.
J Med Genet. 1992 Jun;29(6):383-9. doi: 10.1136/jmg.29.6.383.
A family study was carried out to clarify the problem of two separate muscle disease phenotypes in a large consanguineous pedigree. These were a severe limb-girdle type muscular dystrophy and a mild late onset distal myopathy. Thirty-two first degree and 14 other relatives of 18 previously examined index patients were available for clinical examination. Twenty-three subjects underwent computed tomography of the lower leg muscles. No new cases of limb-girdle type muscular dystrophy were found. Distal myopathy was diagnosed in 14 subjects, 10 first degree relatives and four other relatives. Segregation analysis showed that the corrected proportion of affected with the severe proximal type was 0.246 and the proportion of affected with the distal myopathy was 0.58. Pedigree analysis is compatible with the possibility that the mild, late onset distal myopathy is caused by a dominant gene and that the limb-girdle type may be expressed in homozygotes.
开展了一项家族研究，以阐明一个大型近亲家系中两种不同肌肉疾病表型的问题。这两种疾病分别是严重的肢带型肌营养不良症和轻度迟发性远端肌病。18名先前已接受检查的索引患者的32名一级亲属和14名其他亲属可供临床检查。23名受试者接受了小腿肌肉的计算机断层扫描。未发现新的肢带型肌营养不良症病例。14名受试者被诊断为远端肌病，其中10名是一级亲属，4名是其他亲属。分离分析表明，严重近端型患者的校正比例为0.246，远端肌病患者的比例为0.58。系谱分析符合以下可能性：轻度迟发性远端肌病由显性基因引起，肢带型可能在纯合子中表达。
