Arts W F, Bethlem J, Volkers W S
J Neurol. 1978 Feb 14;217(3):201-6. doi: 10.1007/BF00312962.
Six members of a family suffered from benign myopathy over four generations. The clinical, laboratory, electromyographic, histological and genetic data were consistent with benign myopathy with autosomal dominant inheritance. Congenital torticollis was a feature in one patient. Linkage studies revealed no linkage between the locus of this myopathy and the locus of any of 17 genetic markers investigated. This family was of Polish descent, which indicates a widespread occurrence of this benign hereditary myopathy. The data presented are a strong argument in favor of a specific new disease entity.
一个家族的六名成员在四代人中患有良性肌病。临床、实验室、肌电图、组织学和遗传学数据与常染色体显性遗传的良性肌病一致。一名患者有先天性斜颈特征。连锁研究表明，该肌病的基因座与所研究的17种遗传标记中的任何一种基因座之间均无连锁关系。这个家族是波兰裔，这表明这种良性遗传性肌病广泛存在。所呈现的数据有力地支持了一种特定的新疾病实体。
