title: Extreme variability of expression in monozygotic twins with FSH muscular dystrophy.
abstract: 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.
authors.affiliation: Neuromuscular Disease Center, University of Rochester, School of Medicine and Dentistry, NY.
authors.forename: R
authors.initials: R
authors.lastname: Tawil
authors.forename: D
authors.initials: D
authors.lastname: Storvick
authors.forename: T E
authors.initials: TE
authors.lastname: Feasby
authors.forename: B
authors.initials: B
authors.lastname: Weiffenbach
authors.forename: R C
authors.initials: RC
authors.lastname: Griggs
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D004200:Diseases in Twins / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007537:Isometric Contraction / Q000502:physiology; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D012150:Polymorphism, Restriction Fragment Length; D014430:Twins, Monozygotic / Q000235:genetics*
chemical_list: D005819:Genetic Markers