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Article

Muscle pain as the only presenting symptom in a girl with dystrophinopathy.

Pediatric neurology - 1 Jan 2008

Ceulemans Berten P, Storm Katrien, Reyniers Edwin, Callewaert Luc, Martin Jean Jacques

Abstract excerpt

We present a family with dystrophinopathy in whom the proband is a female aged 4.5 years, who presented with exertional muscle pain without weakness. Familial analysis identified a maternal nephew of the proband who demonstrated a similar clinical picture, with asymptomatic cardiomyopathy. A DNA analysis revealed an in-frame deletion in the proximal part of domain II of the dystrophin gene. Extensive familial...

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Source

Identifiers

PMID: 18054699
DOI: 10.1016/j.pediatrneurol.2007.09.006

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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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