Article
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
European journal of human genetics : EJHG - 1 May 2010
Barat-Houari Mouna, Nguyen Karine, Bernard Rafaëlle, Fernandez Céline, Vovan Catherine, Bareil Corinne, Khau Van Kien Philippe, Thorel Delphine, Tuffery-Giraud Sylvie, Vasseur Francis, Attarian Shahram, Pouget Jean, Girardet Anne, Lévy Nicolas, Claustres Mireille
Abstract excerpt
Molecular pathophysiology of facioscapulohumeral muscular dystrophy (FSHD) involves the heterozygous contraction of the number of tandemly repeated D4Z4 units at chromosome 4q35.2. FSHD is associated with a range of 1-10 D4Z4 units instead of 11-150 in normal controls. Several factors complicate FSHD molecular diagnosis, especially the cis-segregation of D4Z4 contraction with a 4qA allele, whereas D4Z4 shortening...
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