Article
Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.
Muscle & nerve - 1 Apr 2002
Vielhaber Stefan, Jakubiczka Sibylle, Schröder J Michael, Sailer Michael, Feistner Helmut, Heinze Hans-Jochen, Wieacker Peter, Bettecken Thomas
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is associated with the deletion of a variable number of 3.3-kb subunits of a tandemly arranged repeat (D4Z4) on chromosome 4q35. EcoRI/BlnI fragments in the range of 10-35 kb are currently defined as disease-associated. Diagnosis of FSHD is frequently complicated by interchromosomal exchange with a homologous locus on 10q26. We present clinical and laboratory data of...
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