Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere.
Publication year
2002Source
Nature Genetics, 32, 2, (2002), pp. 235-6ISSN
Publication type
Article / Letter to editor
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Organization
Neurology
Human Genetics
Journal title
Nature Genetics
Volume
vol. 32
Issue
iss. 2
Page start
p. 235
Page end
p. 6
Subject
Neuromuscular and neurometabolic disorders; Neuromusculaire en neurometabole aandoeningenAbstract
Contractions in the polymorphic D4Z4 repeat array of subtelomere 4qter cause autosomal dominant facioscapulohumeral muscular dystrophy in humans. A polymorphic segment of 10 kb directly distal to D4Z4 exists in two allelic forms, 4qA and 4qB. Although both alleles are equally common in the general population, we now report that FSHD is associated solely with the 4qA allele.
This item appears in the following Collection(s)
- Academic publications [238441]
- Faculty of Medical Sciences [90373]
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