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Article

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?

Human genetics - 1 Oct 2001

Kerr T P, Sewry C A, Robb S A, Roberts R G

Abstract excerpt

More than 98% of Duchenne muscular dystrophy (DMD) mutations result in the premature termination of the dystrophin open reading frame at various points over its 11-kb length. Despite this wide variation in coding potential (0%-98.6% of the full-length protein), the truncating mutations are associated with a surprisingly uniform severity of phenotype. This uniformity is probably attributable to ablation of the...

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Source

Identifiers

PMID: 11702221
DOI: 10.1007/s004390100598

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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