Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay.
作者信息
Essex C, Roper H
机构信息
Child Development Unit, Gulson Hospital, Coventry CV1 2HR.
出版信息
BMJ. 2001 Jul 7;323(7303):37-8. doi: 10.1136/bmj.323.7303.37.
Abstract
摘要
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Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay.本周病例：以全面发育迟缓为表现的杜氏肌营养不良症的延迟诊断
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Investigation of global developmental delay.全球发育迟缓的调查
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本文引用的文献
1
Failure of early diagnosis in symptomatic Duchenne muscular dystrophy.有症状的杜氏肌营养不良症早期诊断失败。
Lancet. 1999 Feb 13;353(9152):557-8. doi: 10.1016/s0140-6736(98)05279-9.
2
Redefinition of dystrophin isoform distribution in mouse tissue by RT-PCR implies role in nonmuscle manifestations of duchenne muscular dystrophy.通过逆转录聚合酶链反应对小鼠组织中肌营养不良蛋白亚型分布的重新定义表明其在杜兴氏肌营养不良症非肌肉表现中的作用。
Mol Genet Metab. 1998 Dec;65(4):272-81. doi: 10.1006/mgme.1998.2763.
3
Duchenne muscular dystrophy presenting with failure to thrive.以生长发育迟缓为表现的杜氏肌营养不良症。
Arch Dis Child. 1995 May;72(5):437-8. doi: 10.1136/adc.72.5.437.
4
Duchenne muscular dystrophy gene product is not identical in muscle and brain.杜氏肌营养不良症基因产物在肌肉和大脑中并不相同。
Nature. 1989 Jan 5;337(6202):76-8. doi: 10.1038/337076a0.
5
Population frequencies of inherited neuromuscular diseases--a world survey.遗传性神经肌肉疾病的人群发病率——一项全球调查。
Neuromuscul Disord. 1991;1(1):19-29. doi: 10.1016/0960-8966(91)90039-u.
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