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Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

✍ Scribed by Borian T. Buzhov; Richard J.L.F. Lemmers; Ivailo Tournev; Michiel J.R. van der Wielen; Boriana Ishpekova; Radoslav Petkov; Julia Petrova; Rune R. Frants; George W. Padberg; Silvère M. van der Maarel

Book ID
116792316
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
138 KB
Volume
15
Category
Article
ISSN
0960-8966

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We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length polymorphisms detected by probes that lie within and outside the DMD gene, we could demonstrate that the maternal grandfather has transmitted two distin