Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy

作者: ALAN E. H. EMERY

DOI: 10.1038/266472A0

关键词:

摘要: X-LINKED Duchenne muscular dystrophy is a serious genetic disorder for which at present there no effective treatment. It characterised by progressive muscle wasting and weakness first becomes apparent around the age of 3–5 years, leading to death usually before 20 (ref. 1). A proportion female heterozygous carriers have significantly elevated serum levels creatine kinase woman who found be high risk having an affected son can elect amniocentesis with antenatal foetal sexing selective abortion any male foetus. such aborted foetuses will, however, normal but since cause not known it yet possible diagnose foetus in utero. As step this direction we examined histology serum, amniotic fluid number therapeutically dystrophy. We report that histology, possibly level kinase, may abnormal even second trimester pregnancy.

参考文章(10)
S B Rosalki, An improved procedure for serum creatine phosphokinase determination. Journal of Laboratory and Clinical Medicine. ,vol. 69, pp. 696- 705 ,(1967) , 10.5555/URI:PII:0022214367901795
N M Papadopoulos, W C Hess, D O'Doherty, J E McLane, A Procedure for the Determination of Cerebro spinal Fluid Total Protein and Gamma Globulin in Neurologic Disorders Clinical Chemistry. ,vol. 5, pp. 569- 574 ,(1959) , 10.1093/CLINCHEM/5.6.569
D Vassilopoulos, A E Emery, Muscle nuclear changes in fetuses at risk for Duchenne muscular dystrophy. Journal of Medical Genetics. ,vol. 14, pp. 13- 15 ,(1977) , 10.1136/JMG.14.1.13
PETER HUDGSON, G. W. PEARCE, JOHN N. WALTON, Pre-clinical muscular dystrophy: histopathological changes observed on muscle biopsy. Brain. ,vol. 90, pp. 565- 576 ,(1967) , 10.1093/BRAIN/90.3.565
W. G. Bradley, P. Hudgson, P. F. Larson, T. A. Papapetropoulos, M. Jenkison, Structural changes in the early stages of Duchenne muscular dystrophy Journal of Neurology, Neurosurgery, and Psychiatry. ,vol. 35, pp. 451- 455 ,(1972) , 10.1136/JNNP.35.4.451
James Toop, Alan E. H. Emery, Muscle histology in fetuses at risk for Duchenne muscular dystrophy Clinical Genetics. ,vol. 5, pp. 230- 233 ,(2008) , 10.1111/J.1399-0004.1974.TB01687.X
D Vassilopoulos, E M Lumb, A E Emery, Muscle nuclear size in neuromuscular disease. Journal of Neurology, Neurosurgery, and Psychiatry. ,vol. 39, pp. 159- 162 ,(1976) , 10.1136/JNNP.39.2.159
Alan E.H. Emery, John N. Walton, The genetics of muscular dystrophy. Progress in Medical Genetics#R##N#Volume 5. ,vol. 5, pp. 116- 145 ,(1967) , 10.1016/B978-1-4831-6757-2.50008-7
H. Heyck, G. Laudahn, P. -M. Carsten, Enzymaktivitätsbestimmungen bei Dystrophia musculorum progressiva Klinische Wochenschrift. ,vol. 44, pp. 695- 700 ,(1966) , 10.1007/BF01790793