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Origin of New Mutations in Duchenne Muscular Dystrophy

Overview
Journal Hum Genet
Specialty Genetics
Date 1986 Dec 1
PMID 2878873
Citations 5
Authors
L Roncuzzi
A Ferlini
A Pirozzi
G Romeo
Affiliations
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Abstract

Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene. The reconstruction of grandparental haplotypes indicates the occurrence of at least three new mutations, two in grandpaternal chromosomes and one in a grandmaternal chromosome. Two additional (but less well documented) new mutations might have occurred respectively in a grandfather's and in a grandmother's chromosome, the latter being represented by a deletion mutation. The new mutations detected in this study therefore add to a total of either three or five out of nine apparently independent mutations present in pedigrees without recurrence of the disorder.

Citing Articles

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Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies.

Romeo G, Devoto M, Archidiacono N, Ferlini A, Roncuzzi L, Melis M Eur J Pediatr. 1988; 147(4):412-5.

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Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the....

Darras B, Blattner P, Harper J, SPIRO A, Alter S, Francke U Am J Hum Genet. 1988; 43(5):620-9.

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Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

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Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene.

Cockburn D, Munro E, Craig I, Boyd Y Hum Genet. 1992; 90(4):407-12.

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