Duchenne Muscular Dystrophy in a Girl Identified by Dystrophin Deficiency

J. Maytal; A. L. Shanske; J. E. Fox; S. Lipper; L. Eviatar

doi:10.1055/s-2008-1071435

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Neuropediatrics 1991; 22(3): 163-165
DOI: 10.1055/s-2008-1071435

Case report

Duchenne Muscular Dystrophy in a Girl Identified by Dystrophin Deficiency

J. Maytal¹ , A. L. Shanske² , J. E. Fox² , S. Lipper³ , L. Eviatar¹

¹Division of Pediatric Neurology, Schneider Children's Hospital, Bronx, New York, USA
²Division of Human Genetics, Schneider Children's Hospital, Bronx, New York, USA
³Department of Pathology, Long Island Jewish Medical Center, The Albert Einstein College of Medicine, Bronx, New York, USA

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Publikationsdatum:
19. März 2008 (online)

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Abstract

We report an isolated case of a girl aged three years six months with Duchenne muscular dystrophy. Analysis of the patient's DNA with a probe covering the DNA gene revealed no deletion. Dystrophin, studied in biopsied muscle from the patient, using antidystrophin antibody in combination with immunofluorescence, was nearly completely absent. In this sporadic case of female muscular dystrophy, the identification of dystrophin-deficient muscle fibers made it possible to establish an accurate diagnosis of DMD affected female.

Key words

Duchenne muscular dystrophy - Female - Dystrophin deficiency