Article
Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles.
Neurology - 14 Oct 2003
Wohlgemuth M, Lemmers R J, van der Kooi E L, van der Wielen M J, van Overveld P G, Dauwerse H, Bakker E, Frants R R, Padberg G W, van der Maarel S M
Abstract excerpt
OBJECTIVE: Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is associated with a contraction of the D4Z4 repeat array on chromosome 4. So far, homozygosity or compound heterozygosity for FSHD alleles has not been described, and it has been debated whether the absence of such subjects is because of the rarity or the lethality of the disorder. METHODS: Two unrelated families in which the probands...
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