Literature DB >> 86094

Antenatal diagnosis of Duchenne muscular dystrophy.

A E Emery, D Burt, V Dubowitz, I Rocker, D Donnai, R Harris, P Donnai.   

Abstract

As a means of assessing the value of fetal serum-creatine-kinase (S.C.K.) levels in the antenatal diagnosis of Duchenne muscular dystrophy (D.M.D.), fetal muscle from control and at-risk fetuses was studied histologically and the findings were related to fetal S.C.K. levels. Of 7 at-risk fetuses 4 were believed to have normal muscle and all these had normal S.C.K. levels. However, of 3 fetuses with abnormal muscle only 1 had a raised S.C.K. level. At present caution should be exercised in offering antenatal diagnosis in D.M.D. on the basis of fetal S.C.K. levels.

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Year:  1979        PMID: 86094     DOI: 10.1016/s0140-6736(79)91264-9

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  7 in total

Review 1.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors:  H Moser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  Feasibility of neonatal screening for Duchenne muscular dystrophy.

Authors:  R Skinner; A E Emery; G Scheuerbrandt; J Syme
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

3.  Intracellular calcium and pathogenesis and antenatal diagnosis of Duchenne muscular dystrophy.

Authors:  A E Emery; D Burt
Journal:  Br Med J       Date:  1980-02-09

4.  Detection of carriers for Duchenne muscular dystrophy. Quality control of creatine kinase assay.

Authors:  H Plauchu; C Junien; I Maire; R Said; R Gozlan; J M Lalouel
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  Measurement of erythrocyte membrane elasticity as a diagnostic aid in Duchenne muscular dystrophy.

Authors:  G B Nash; S J Wyard
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

6.  Prednisolone rescues Duchenne muscular dystrophy phenotypes in human pluripotent stem cell-derived skeletal muscle in vitro.

Authors:  Ziad Al Tanoury; John F Zimmerman; Jyoti Rao; Daniel Sieiro; Harold M McNamara; Thomas Cherrier; Alejandra Rodríguez-delaRosa; Aurore Hick-Colin; Fanny Bousson; Charlotte Fugier-Schmucker; Fabio Marchiano; Bianca Habermann; Jérome Chal; Alexander P Nesmith; Svetlana Gapon; Erica Wagner; Vandana A Gupta; Rhonda Bassel-Duby; Eric N Olson; Adam E Cohen; Kevin Kit Parker; Olivier Pourquié
Journal:  Proc Natl Acad Sci U S A       Date:  2021-07-13       Impact factor: 11.205

7.  beta-Lactamase-producing anaerobes.

Authors:  S Reilly; A T Willis
Journal:  Lancet       Date:  1980-11-01       Impact factor: 79.321

  7 in total

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