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Article

Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature.

Neuromuscular disorders : NMD - 1 Nov 2019

Gibbs Elizabeth M, Barthélémy Florian, Douine Emilie D, Hardiman Natalie C, Shieh Perry B, Khanlou Negar, Crosbie Rachelle H, Nelson Stanley F, Miceli M Carrie

Abstract excerpt

Duchenne muscular dystrophy is caused by mutations in the dystrophin-encoding DMD gene. While Duchenne is most commonly caused by large intragenic deletions that cause frameshift and complete loss of dystrophin expression, in-frame deletions in DMD can result in the expression of internally truncated dystrophin proteins and may be associated with a milder phenotype. In this study, we describe two individuals with...

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Source

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Identifiers

PMID: 31672265
DOI: 10.1016/j.nmd.2019.09.009
PMCID: PMC7092699

Genes

DMD

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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