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Neuropediatrics 1993; 24(2): 93-97
DOI: 10.1055/s-2008-1071521
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Dystrophin Expression in Duchenne Patients with "In-Frame" Gene Deletions

Louise V. B. Nicholson1 , Kate M. D. Bushby1 , Margaret A.  Johnson1 , D.  Gardner-Medwin1 , I. B. Ginjaar2
  • 1Muscular Dystrophy Group Research Laboratories, Regional Neurosciences Centre, Newcastle General Hospital, Newcastle upon Tyne, UK
  • 2Department of Human Genetics, Sylvius Laboratory, Leiden, Netherlands
Further Information

Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Details of disease progression and dystrophin expression are presented for three patients with Duchenne muscular dystrophy (DMD) who unexpectedly had intragenic deletions which maintained the open reading frame for mRNA translation. Analysis of dystrophin in muscle biopsies showed variable dystrophin synthesis in all three patients. Two with relatively small deletions (missing exons 10-13 and 52-55) had low levels of dystrophin which were comparable to those found in many DMD patients. The third patient (with a larger deletion which removed exons 3-25) produced dystrophin in the high abundance which is normally associated with patients who have Becker muscular dystrophy. This is the first time that a patient has been described with the clinical phenotype of DMD, a large amount of dystrophin which was correctly localized at the periphery of muscle fibres and an in-frame deletion of exons in the amino terminal domain.

Key words

Dystrophin - Duchenne muscular dystrophy - Open reading frame

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