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Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. (Barnneurologisk forskning/Ahlsten)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience.
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2008 (English)In: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 12, no 5, 404-7 p.Article in journal (Refereed) Published
Abstract [en]

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 kinase (CK) value as well as by neurophysiological and muscle biopsy findings at the age of 23 months. The diagnosis was confirmed by identification of a stop codon in exon 43 (p.2095Arg>X) of the dystrophin gene. Interestingly, the father and his near relatives had increased serum CK values without any clinical symptoms or signs, nor a defect in caveolin-3 gene. We suggest that the occurrence of familial hyperCKemia may have triggered the early onset of symptoms in our patient.

Place, publisher, year, edition, pages
2008. Vol. 12, no 5, 404-7 p.
Keyword [en]
Duchenne muscular dystrophy, Genetics, Idiopathic familial hyperCKemia
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-102951DOI: 10.1016/j.ejpn.2007.10.014ISI: 000259012000010PubMedID: 18833644OAI: oai:DiVA.org:uu-102951DiVA: diva2:217099
Available from: 2009-05-13 Created: 2009-05-13 Last updated: 2017-12-13Bibliographically approved

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Dahl, Niklas

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