Novelli G, Gennarelli M, Menegazzo E, Angelini C, Dallapiccola B
Institute of Medical Genetics, Catholic University of Rome, Italy.
Neuromuscul Disord. 1995 Mar;5(2):157-9. doi: 10.1016/0960-8966(94)00044-a.
A myotonic dystrophy (DM) family is described in which discordant DM phenotypes were found in the children of two affected sisters with similar CTG expansion and clinical manifestations. In this family, congenital as well as early severe childhood and later childhood onset DM coexist. This observation strengthens the limited ability of lymphocytes CTG repeat number analysis in predicting genotype-phenotype correlations in DM patients.
本文描述了一个强直性肌营养不良（DM）家系，在两名具有相似CTG扩增和临床表现的患病姐妹的子女中发现了不一致的DM表型。在这个家系中，先天性、儿童早期严重型以及儿童后期起病的DM并存。这一观察结果强化了淋巴细胞CTG重复序列数分析在预测DM患者基因型-表型相关性方面能力有限的观点。
