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Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

✍ Scribed by Essen, Anthonie J. van ;Mulder, Inge M. ;Vlies, Pieter van der ;Hout, Annemarie H. van der ;Buys, Charles H.C.M. ;Hofstra, Robert M.W. ;Dunnen, Johan T. den


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
66 KB
Volume
118A
Category
Article
ISSN
0148-7299

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A boy with the clinical phenotype of Duchenne muscular dystrophy had no detectable deletion or duplication in the dystrophin gene by the routine multiplex PCR method. In mRNA extracted from his muscle biopsy, newly recognized extra-exons of 172 bp and 202 bp were present between exon 25 and 26 sugge