Article
Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
Neurology - 20 Feb 2007
Deak K L, Lemmers R J L F, Stajich J M, Klooster R, Tawil R, Frants R R, Speer M C, van der Maarel S M, Gilbert J R
Abstract excerpt
BACKGROUND: In the majority of facioscapulohumeral muscular dystrophy (FSHD) cases, the molecular basis of the disease is due to loss of subtelomeric D4Z4 repeat units at 4q35. Occasionally, an apparent absence of the contracted D4Z4 repeat is associated with FSHD. One explanation for this finding is a deletion in the region proximal to the D4Z4 repeat array that encompasses the p13E-11 (D4F104S1) probe-binding...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.