Ricker K, Koch M C, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley R T
Department of Neurology, University of Würzburg, Germany.
Neurology. 1994 Aug;44(8):1448-52. doi: 10.1212/wnl.44.8.1448.
We describe three families with a dominantly inherited disorder. Affected individuals have myotonia, proximal muscle weakness, and cataracts. There was no abnormal CTG repeat expansion of the myotonic dystrophy (DM) gene in DNA from blood and muscle. The structure of the three families permitted linkage analysis, and there is no linkage to the gene loci for DM or to the loci for the muscle chloride channel disorders or muscle sodium channel disorders. The collection of symptoms in these three families seems to represent a new disorder.
我们描述了三个患有显性遗传疾病的家族。受影响的个体有肌强直、近端肌无力和白内障。血液和肌肉DNA中强直性肌营养不良（DM）基因没有异常的CTG重复扩增。这三个家族的结构允许进行连锁分析，且与DM基因位点、肌肉氯通道疾病或肌肉钠通道疾病的基因位点均无连锁关系。这三个家族的症状组合似乎代表了一种新的疾病。
