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Article

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

Muscle & nerve - 1 Mar 2007

Weiss Claudia, Jakubiczka Sibylle, Huebner Angela, Klopocki Eva, Kress Wolfram, Voit Thomas, Hübner Christoph, Schuelke Markus

Abstract excerpt

We describe a patient with Duchenne muscular dystrophy (DMD) who additionally suffered from intractable seizures, severe mental retardation, and a marked macroglossia. He also had endocrinologic abnormalities consisting of growth hormone deficiency, delayed puberty, and adrenal hypoplasia. We detected a duplication of DMD exon 18 and flanking introns that caused a frame-shift and was not removed by corrective...

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Source

Identifiers

PMID: 17143888
DOI: 10.1002/mus.20705

Genes

DMD
FKRP

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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