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

doi:10.1002/ana.410440619

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Article

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

Annals of neurology - 1 Dec 1998

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

Abstract excerpt

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 misse...

Topics

Amino Acid Sequence
Base Sequence
Child
Child, Preschool
Cytoskeletal Proteins
DNA, Complementary
Dystroglycans
Dystrophin
Genetic Linkage
Humans
Laminin
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Glycoproteins

Molecular Sequence Data

Muscles

Mutation, Missense

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 9851445
DOI: 10.1002/ana.410440619

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9851445-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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