Duplication of dystrophin gene and dissimilar clinical phenotype in the same family.

doi:10.1016/0960-8966(95)00008-b

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Article

Duplication of dystrophin gene and dissimilar clinical phenotype in the same family.

Neuromuscular disorders : NMD - 1 Nov 1995

Toscano A, Vitiello L, Comi G P, Galvagni F, Miorin M, Prelle A, Fortunato F, Bardoni A, Mora M, Fiumara A

Abstract excerpt

We report here three related patients with a duplication of exons 19-41 of the dystrophin gene, having dissimilar clinical phenotype and dystrophin immunohistochemistry. Two brothers aged six and three years had myalgia, proximal muscular weakness and hypertrophic calves, with 10- 20-fold increas...

Topics

Blotting, Southern
Blotting, Western
Child
Child, Preschool
DNA
Dystrophin
Exons
Fluorescent Antibody Technique
Humans
Immunohistochemistry
Male
Multigene Family
Muscle, Skeletal
Muscular Dystrophies
Phenotype

Source

Open in PubMed

Identifiers

PMID: 8580729
DOI: 10.1016/0960-8966(95)00008-b

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8580729-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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