Spurlock, Gillian, Jim, Hoi-Ping and Upadhyaya, Meena 2010. Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families. Muscle & Nerve 42 (5) , pp. 820-821. 10.1002/mus.21766 |
Abstract
The molecular defect in fascioscapulohumeral muscular dystrophy (FSHD) has proved difficult to explain. Although contraction within a polymorphic tandem repeat located at 4q35.2 is unequivocally associated with disease expression, the specific biological mechanism involved in the phenotype has yet to be resolved. Several studies have demonstrated that a specific 4q35.2-located haplotype (4qA161) is also closely associated with FSHD expression. Therefore, in this study we analyzed the haplotype association in a large cohort of sporadic and familial FSHD families from the UK. In all cases the affected individuals displayed the 4qA161 haplotype.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Schools > Medicine |
Subjects: | R Medicine > R Medicine (General) |
Uncontrolled Keywords: | 4qA, FSHD, haplotype analysis, subtelomeric regions, SSLP |
Publisher: | John Wiley & Sons |
ISSN: | 0148-639X |
Last Modified: | 04 Jun 2017 03:34 |
URI: | https://orca.cardiff.ac.uk/id/eprint/22928 |
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