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Clinical Pediatrics, Vol. 25, No. 5, 276-278 (1986)
DOI: 10.1177/000992288602500509

Duchenne Muscular Dystrophy in a 46 XY Female

E.A. Wulfsberg

Departments of Pediatrics and Clinical Investigation, Naval Hospital San Diego, California and Children's Hospital, Division of Neurology, San Diego, California

R.R. Skoglund

Departments of Pediatrics and Clinical Investigation, Naval Hospital San Diego, California and Children's Hospital, Division of Neurology, San Diego, California

The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is an X-linked disorder that ordinarily has full clinical expression only in males. Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive muscular dystrophy as well as in females with X-chromosome abnormalities such as the Turner syndrome. A girl with full expression of DMD due to a 46 XY karyotype is reported, and other clinical conditions in which expression of the DMD gene occurs in females are reviewed.


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