A CASE OF PATERNALLY INHERITED CONGENITAL MYOTONIC-DYSTROPHY

被引：31

作者：

NAKAGAWA, M

YAMADA, H

HIGUCHI, I

KAMINISHI, Y

MIKI, T

JOHNSON, K

OSAME, M

机构：

[1] OSAKA UNIV,SCH MED,DEPT GERIATR MED,OSAKA 553,JAPAN

[2] CHARING CROSS & WESTMINSTER MED SCH,DEPT ANAT,LONDON W6 8RF,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 05期

关键词：

D O I：

10.1136/jmg.31.5.397

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report two sisters with congenital myotonic dystrophy (CDM) born to a normal mother and an affected father. The congenitally affected daughters had symptoms from birth. The age of onset of DM in the father was 39 years. Analysis of the CTG trinucleotide expansion in this family showed increase in the repeat length with increasing severity, with the smallest expansion in the grandfather and the largest expansion in the younger of the two CDM sisters. This family shows that exceptionally it is possible for CDM to be inherited paternally and refutes the hypothesis that CDM, is exclusively of maternal origin. This contradicts several of the previous hypotheses concerning the mechanisms by which the CDM phenotype arises.

引用

页码：397 / 400

页数：4

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