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Article

Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers.

Neuromuscular disorders : NMD - 1 Mar 2016

Vainzof Mariz, Feitosa Leticia, Canovas Marta, Ayub-Guerrieri Danielle, Pavanello Rita de Cássia M, Zatz Mayana

Abstract excerpt

Utrophin expression was investigated in two phenotypically discordant Duchenne muscular dystrophy half-brothers. The youngest was wheelchair-bound at age 9, while his mildly affected older brother was able to walk without difficulties at age 15. DNA analysis revealed an out-of-frame exon 2 duplication in the DMD gene, associated with muscle dystrophin protein deficiency. Utrophin localization and quantity was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26851826
DOI: 10.1016/j.nmd.2016.01.001

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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