Wulfsberg E A, Skoglund R R
Clin Pediatr (Phila). 1986 May;25(5):276-8. doi: 10.1177/000992288602500509.
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.
最常见的肌营养不良症——杜氏肌营养不良症（DMD），是一种X连锁疾病，通常仅在男性中出现完全的临床症状。女性出现典型临床特征的报道较为罕见，但在表型相同的常染色体隐性肌营养不良症女性以及患有X染色体异常（如特纳综合征）的女性中也曾发生过。本文报道了一名核型为46 XY的女孩出现了DMD的完全症状，并对DMD基因在女性中表达的其他临床情况进行了综述。
