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Neonatal Screening for Muscular Dystrophy

  • R. Beckmann
  • J. M. Robert
  • H. Zellweger
  • L. Beubl
  • C. Dellamonica
  • G. Scheuerbrandt

Abstract

DMD is one of the most frequent hereditary diseases in childhood. About every 3000th to 5000th family has either a boy with DMD or a girl with carrier properties (Zellweger and Antonik 1975; Beckmann and Scheuerbrandt 1976; Emery 1977; Moser 1977; Danieli et al. 1977). DMD carriers who normally do not show clinical signs of the disease transmit DMD to 50% of their male offspring by passing on to the next generation a mutated gene located on one of their X chromosomes. Because of this sex-linked recessive mode of inheritance, DMD affects only boys. Theoretically, one-third of the DMD cases are caused by new mutations (Haldane 1935; Gardner-Medwin 1970). The rate of mutations is probably equal in both sexes (Vogel 1977). Danieli et al. (1977) and Pickard et al. (1978) suggested a lower percentage of spontaneous cases. Emery (1977) has analyzed in detail the genetics of DMD.

Keywords

Genetic Counseling Creatine Kinase Muscular Dystrophy Newborn Screening Duchenne Muscular Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1980

Authors and Affiliations

  • R. Beckmann
  • J. M. Robert
  • H. Zellweger
  • L. Beubl
  • C. Dellamonica
  • G. Scheuerbrandt

There are no affiliations available

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