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

L R Goldberg; I Hausmanowa-Petrusewicz; A Fidzianska; D J Duggan; L S Steinberg; E P Hoffman

doi:10.1002/ana.410440619

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

Ann Neurol. 1998 Dec;44(6):971-6. doi: 10.1002/ana.410440619.

Authors

L R Goldberg¹, I Hausmanowa-Petrusewicz, A Fidzianska, D J Duggan, L S Steinberg, E P Hoffman

Affiliation

¹ Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, PA 15261, USA.

PMID: 9851445
DOI: 10.1002/ana.410440619

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence / genetics
Base Sequence / genetics
Child
Child, Preschool
Cytoskeletal Proteins / metabolism*
DNA, Complementary / genetics
Dystroglycans
Dystrophin / genetics*
Dystrophin / 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

Substances

Cytoskeletal Proteins
DAG1 protein, human
DNA, Complementary
Dystrophin
Laminin
Membrane Glycoproteins
Sarcoglycans
Dystroglycans