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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
TLDR
The 14 kb human Duchenne muscular dystrophy cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned and the majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript. Expand
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
TLDR
A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype. Expand
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
TLDR
The nucleotide sequence of two highly conserved DNA fragments from the DXS164 locus and their homologous sequences from the mouse X chromosome are presented and are candidates for portions of the gene responsible for both DMD and BMD. Expand
Localization of the McLeod locus (XK) within Xp21 by deletion analysis.
TLDR
DNA isolated from each patient was screened for the presence or absence of various cloned sequences located in the Xp21 region of the human X chromosome and results place the locus for the McLeod phenotype within a 500-kb interval distal from the CGD locus toward the DMD locus. Expand
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment
TLDR
Five DMD males are shown to exhibit deletions for one of the cloned DNA segments and at least 38 kb of surrounding DNA, which will complement the existing Xp21 probes for use in carrier detection and prenatal diagnosis of DMD. Expand
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.
TLDR
By cloning the endpoints of a DMD-associated deletion, the J66 polymorphism is "jumped" 1100 kb from pERT87-1 to a new locus designated J66 (DXS268), mapping distally within the Duchenne muscular dystrophy (DMD) gene. Expand
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.
TLDR
The inheritance of Duchenne muscular dystrophy in 25 families was studied with 13 X chromosome specific cloned DNA fragments from 10 loci in and surrounding Xp21 and neither genetic nor physical evidence indicates an unusually high recombination rate across Xp 21. Expand
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy
TLDR
Both the physical and genetic data point to a very large size for this X-linked muscular dystrophy locus. Expand
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