Document Detail

Extreme variability of expression in monozygotic twins with FSH muscular dystrophy.
MedLine Citation:
PMID:  8094896     Owner:  NLM     Status:  MEDLINE    
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.
R Tawil; D Storvick; T E Feasby; B Weiffenbach; R C Griggs
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  43     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1993 Feb 
Date Detail:
Created Date:  1993-03-23     Completed Date:  1993-03-23     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  345-8     Citation Subset:  AIM; IM    
Neuromuscular Disease Center, University of Rochester, School of Medicine and Dentistry, NY.
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MeSH Terms
Chromosome Mapping
Chromosomes, Human, Pair 4
Diseases in Twins / genetics*
Genetic Markers
Isometric Contraction / physiology
Muscular Dystrophies / genetics*,  physiopathology
Polymorphism, Restriction Fragment Length
Twins, Monozygotic / genetics*
Grant Support
Reg. No./Substance:
0/Genetic Markers

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