EXTREME VARIABILITY OF EXPRESSION IN MONOZYGOTIC TWINS WITH FSH MUSCULAR-DYSTROPHY

被引：36
作者：
TAWIL, R
STORVICK, D
FEASBY, TE
WEIFFENBACH, B
GRIGGS, RC
机构：
[1] UNIV ROCHESTER, SCH MED & DENT, CTR NEUROMUSCULAR DIS, ROCHESTER, NY 14642 USA
[2] UNIV ROCHESTER, SCH MED & DENT, DEPT NEUROL, GORELL MOLEC BIOL LAB, ROCHESTER, NY 14642 USA
[3] UNIV CALGARY, DEPT CLIN NEUROSCI, CALGARY T2N 1N4, ALBERTA, CANADA
[4] COLLABORAT RES INC, WALTHAM, MA USA
来源：
NEUROLOGY | 1993年 / 43卷 / 02期
关键词：
D O I：
10.1212/WNL.43.2.345
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We describe monozygotic twins who are either discordant or show extreme variability in the expression of facioscapulohumeral muscular dystrophy (FSHD). One twin was severely incapacitated by FSHD. The asymptomatic twin demonstrated equivocal facial weakness on physical examination, but no difference on quantitative myometry when compared with normal controls. High-resolution cytogenetic analysis showed no chromosomal abnormalities. Five polymorphic 4q35 markers known to be linked to FSHD showed identical RFLP patterns, indicating that submicroscopic chromosomal rearrangement is unlikely. We conclude that this set of twins represents an extreme case of variability in the expression of the FSHD gene.
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页码：345 / 348
页数：4
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