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Article

Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2008

Eeg-Olofsson Orvar, Kalimo Hannu, Eeg-Olofsson Karin Edebol, Jagell Sten, Marklund Lena, Simonsson Linda, Dahl Niklas

Abstract excerpt

Familial hyperCKemia is a rare condition, and a combination with Duchenne muscular dystrophy (DMD) is extremely rare. A boy showed muscle weakness from the age of 10 months and presented typical signs of DMD at the age of 18 months. The diagnosis was supported by markedly elevated serum creatine...

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Source

Identifiers

PMID: 18833644
DOI: 10.1016/j.ejpn.2007.10.014

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18833644-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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