Spaans F, Jennekens F G, Mirandolle J F, Bijlsma J B, de Gast G C
Brain. 1986 Dec;109 ( Pt 6):1149-68. doi: 10.1093/brain/109.6.1149.
Thirteen members of a large family presented with a hereditary motor and sensory neuropathy (HMSN); 8 of them also showed more or less prominent signs of myotonic dystrophy (MyD). There were no cases with MyD alone. The disorder showed segregation with genetic markers for the MyD gene on chromosome 19. This was also true for the 5 subjects in which clinically only HMSN had been detected, 3 of whom were young children. This is the first time that a form of HMSN has been found to be coded for by a gene localized on chromosome 19. The syndrome could be caused by an allelic form of the 'common' MyD gene or by two closely linked genes on chromosome 19.
一个大家族中的13名成员患有遗传性运动和感觉神经病变（HMSN）；其中8人还或多或少表现出明显的强直性肌营养不良（MyD）症状。没有仅患MyD的病例。该疾病与19号染色体上MyD基因的遗传标记呈分离现象。在临床上仅检测出患有HMSN的5名受试者中也是如此，其中3名是幼儿。这是首次发现一种形式的HMSN由位于19号染色体上的基因编码。该综合征可能由“常见”MyD基因的等位基因形式或19号染色体上两个紧密连锁的基因引起。
