Article
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy.
Human genetics - 1 Mar 2006
Tonini Maria Manuela O, Lemmers Richard J L F, Pavanello Rita C M, Cerqueira Antonia M P, Frants Rune R, van der Maarel Silvere M, Zatz Mayana
Abstract excerpt
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with contractions of D4Z4 repeat on 4q35. It displays a remarkable inter- and intra-familial clinical variability ranging from severe phenotype to asymptomatic carriers. Mosaicism for the contracted FSHD-sized allele is a recurrent finding, but only DNA from lymphocytes had been studied. It is currently not known if mosaicism is...
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