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Article

Diversity of Dystrophin Gene Mutations and Disease Progression in a Contemporary Cohort of Duchenne Muscular Dystrophy.

Pediatric cardiology - 1 Apr 2022

Gambetta Katheryn E, McCulloch Michael A, Lal Ashwin K, Knecht Kenneth, Butts Ryan J, Villa Chet R, Johnson Jonathan N, Conway Jennifer, Bock Matthew J, Schumacher Kurt R, Law Sabrina P, Friedland-Little Joshua M, Deshpande Shriprasad R, West Shawn C, Lytrivi Irene D, Wittlieb-Weber Carol A

Abstract excerpt

Abnormal dystrophin production due to mutations in the dystrophin gene causes Duchenne Muscular Dystrophy (DMD). Cases demonstrate considerable genetic and disease progression variability. It is unclear if specific gene mutations are prognostic of outcomes in this population. We conducted a retrospective cohort study of DMD patients followed at 17 centers across the USA and Canada from 2005 to 2015 with goal of...

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Identifiers

PMID: 35064276
DOI: 10.1007/s00246-021-02797-6

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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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