DISCORDANT CLINICAL OUTCOME IN MYOTONIC-DYSTROPHY RELATIVES SHOWING (CTG)(N) GREATER-THAN-700 REPEATS

被引：18

作者：

NOVELLI, G

GENNARELLI, M

MENEGAZZO, E

ANGELINI, C

DALLAPICCOLA, B

机构：

[1] UNIV ROMA TOR VERGATA,DEPT PUBL HLTH & CELL BIOL,CHAIR HUMAN GENET,ROME,ITALY

[2] CSS HOSP S GIOVANNI ROTONDO,ROME,ITALY

[3] UNIV PADUA,INST NEUROL CLIN,PADUA,ITALY

来源：

NEUROMUSCULAR DISORDERS | 1995年 / 5卷 / 02期

关键词：

MYOTONIC DYSTROPHY; CTG REPEAT SIZE; ANTICIPATION;

D O I：

10.1016/0960-8966(94)00044-A

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：157 / 159

页数：3

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