A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.
A muscle biopsy from an X-linked muscular dystrophy pedigree showed normal dystrophin and dystrophin-associated proteins. Linkage to multiple markers within the dystrophin gene (LOD=2.7, theta=0) indicated a primary dystrophinopathy. Sequencing of the entire dystrophin RNA revealed a single missense mutation (D3335H) in the unique carboxyl-terminal domain. This is the first report showing that a relatively severe dystrophinopathy can occur despite the correct localization of dystrophin and dystrophin-associated proteins.
Goldberg
L R
LR
Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, PA 15261, USA.
Hausmanowa-Petrusewicz
I
I
Fidzianska
A
A
Duggan
D J
DJ
Steinberg
L S
LS
Hoffman
E P
EP
D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000378:metabolism*; D018076:DNA, Complementary / Q000235:genetics; D049030:Dystroglycans; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007797:Laminin / Q000378:metabolism*; D008297:Male; D008562:Membrane Glycoproteins / Q000378:metabolism*; D008969:Molecular Sequence Data; D009132:Muscles / Q000378:metabolism; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D049031:Sarcoglycans; D014960:X Chromosome / Q000235:genetics
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D018076:DNA, Complementary; D016189:Dystrophin; D007797:Laminin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D049030:Dystroglycans