Literature DB >> 965952

Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study.

M Zatz, O Frota-Pessoa, J A Levy, C A Peres.   

Abstract

Serum CPK was measured in 135 families with Duchenne muscular dystrophy (DMD) and 19 with the Becker type (BMD). Increased CPK was found in 62% of the carriers of DMD and 62.5% of the BMD. Two certain carries of DMD and one of their daughters showed clinical signs of myopathy. Three studied DMD pregnant carriers suggest that there is a decrease in CPK levels around the 4th-5th months of gestation. In genetic counselling of suspected carriers the CPK activity of their normal daughters should always be considered. Our data suggest strongly that CPK activity decreases in carriers with increasing age.

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Year:  1976        PMID: 965952

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  11 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.  A genetic study of Duchenne muscular dystrophy in West Midlands.

Authors:  S Bundey
Journal:  J Med Genet       Date:  1981-02       Impact factor: 6.318

3.  Duchenne muscular dystrophy: data from family studies.

Authors:  G A Danieli; M L Mostacciuolo; G Pilotto; C Angelini; A Bonfante
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  Effects of reproductive compensation and genetic drift on X-linked lethals.

Authors:  K Lange; K Gladstien; M Zatz
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

5.  Serum creatine kinase levels in pubertal, mature, pregnant, and postmenopausal women.

Authors:  S Bundey; J M Crawley; J H Edwards; R A Westhead
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

6.  Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy.

Authors:  A M Davie; A E Emery
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

7.  The genetic status of mothers of isolated cases of Duchenne muscular dystrophy.

Authors:  R J Lane; M Robinow; A D Roses
Journal:  J Med Genet       Date:  1983-02       Impact factor: 6.318

Review 8.  Cardiac involvement in Becker muscular dystrophy.

Authors:  Josef Finsterer; Claudia Stöllberger
Journal:  Can J Cardiol       Date:  2008-10       Impact factor: 5.223

9.  Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.

Authors:  C R Müller; T Grimm
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

10.  Results of blind testing a method to detect carriers of the Duchenne muscular dystrophy gene.

Authors:  G Monckton; M Zatz; C S Mion; H Marusyk
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025

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