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PMID: 9851445 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't

A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.

Annals of neurology ·Vol. 44 ·No. 6 ·1998-12-00 ·Pages 971-6

Goldberg LR, Hausmanowa-Petrusewicz I, Fidzianska A, Duggan DJ, Steinberg LS, Hoffman EP

Abstract

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.

MeSH Terms
Amino Acid Sequence/genetics Base Sequence/genetics Child Child, Preschool Cytoskeletal Proteins/metabolism DNA, Complementary/genetics Dystroglycans Dystrophin/genetics,metabolism Genetic Linkage/genetics Humans Laminin/metabolism Male Membrane Glycoproteins/metabolism Molecular Sequence Data Muscles/metabolism Mutation, Missense/genetics Pedigree Phenotype Sarcoglycans X Chromosome/genetics
Chemicals
Cytoskeletal Proteins DAG1 protein, human DNA, Complementary Dystrophin Laminin Membrane Glycoproteins Sarcoglycans Dystroglycans
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Goldberg L R
Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, PA 15261, USA.
Hausmanowa-Petrusewicz I
Fidzianska A
Duggan D J
Steinberg L S
Hoffman E P
Article Info
Journal
Annals of neurology
Abbr.
Ann Neurol
ISSN
0364-5134
DOI
10.1002/ana.410440619
Published
1998-12-00
Pages
971-6
Language
English
Region
United States
NLM ID
7707449
Subset
IM
Corrections
CommentIn
PMID: 10401797
External Links
PubMed source DOI: 10.1002/ana.410440619 View journal details
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