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Article

Low-level dystrophin expression attenuating the dystrophinopathy phenotype.

Neuromuscular disorders : NMD - 1 Feb 2018

Waldrop Megan A, Gumienny Felecia, El Husayni Saleh, Frank Diane E, Weiss Robert B, Flanigan Kevin M

Abstract excerpt

The reading frame rule suggests that Duchenne muscular dystrophy (DMD) results from DMD mutations causing an out-of-frame transcript, whereas the milder Becker muscular dystrophy results from mutations causing an in-frame transcript. However, predicted nonsense mutations may instead result in altered splicing and an in-frame transcript. Here we report a 10-year-old boy with a predicted nonsense mutation in exon...

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Share to Dystrophin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle, Skeletal

Share to Muscular Dystrophy, Duchenne

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Source

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Identifiers

PMID: 29305136
DOI: 10.1016/j.nmd.2017.11.007
PMCID: PMC9460236

Genes

DMD
LTBP4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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