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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 increase of serum creatine kinase. Muscle biopsy showed dystrophic changes and reduced, patchy binding of dystrophin. The...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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