Literature DB >> 7401126

Carrier detection in Duchenne muscular dystrophy.

J S Fitzsimmons, J I McLachlan, W G Reeves, D W Marriott, A M Woolfson, J Mayhew.   

Abstract

Serum creatine kinase, myoglobin, and percentage lymphocyte capping was determined in ten patients with Duchenne muscular dystrophy, 12 carriers (nine definite and three probable), 16 other female relatives, and eight normal controls. There was no detectable difference in lymphocyte capping ability between any of these clinical groups. Significant myoglobinaemia was present in all the affected males, but the difference in levels between carriers and controls suggested that this test has no advantage over creatine kinase estimations in carrier detection.

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Year:  1980        PMID: 7401126      PMCID: PMC1048539          DOI: 10.1136/jmg.17.3.165

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  9 in total

1.  Diminished cap formation in lymphocytes from patients and carriers of Duchenne muscular dystrophy.

Authors:  H L Verrill; N A Pickard; H D Gruemer
Journal:  Clin Chem       Date:  1977-12       Impact factor: 8.327

Review 2.  Screening for Duchenne muscular dystrophy.

Authors:  V Dubowitz
Journal:  Arch Dis Child       Date:  1976-04       Impact factor: 3.791

3.  Systemic membrane defect in the proximal muscular dystrophies.

Authors:  N A Pickard; H D Gruemer; H L Verrill; E R Isaacs; M Robinow; W E Nance; E C Myers; B Goldsmith
Journal:  N Engl J Med       Date:  1978-10-19       Impact factor: 91.245

4.  Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber.

Authors:  B Mokri; A G Engel
Journal:  Neurology       Date:  1975-12       Impact factor: 9.910

5.  Muscles, membranes and maternal markers.

Authors:  F H Tyler
Journal:  N Engl J Med       Date:  1978-10-19       Impact factor: 91.245

6.  Erythrocyte deformation in human muscular dystrophy.

Authors:  D W Matheson; J L Howland
Journal:  Science       Date:  1974-04-12       Impact factor: 47.728

7.  Distinctive functional properties of human blood L lymphocytes: a comparison with T lymphocytes, B lymphocytes, and monocytes.

Authors:  D A Horwitz; M A Garrett
Journal:  J Immunol       Date:  1977-05       Impact factor: 5.422

8.  Myoglobinaemia in Duchenne muscular dystrophy patients and carriers: A new adjunct to carrier detection.

Authors:  B T Adornato; L J Kagen; W K Engel
Journal:  Lancet       Date:  1978-09-02       Impact factor: 79.321

9.  Serum creatine kinase levels in normal females.

Authors:  R K Satapathy; R Skinner
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

  9 in total
  2 in total

1.  Red-green color vision impairment in Duchenne muscular dystrophy.

Authors:  Marcelo Fernandes Costa; Andre Gustavo Fernandes Oliveira; Claudia Feitosa-Santana; Mayana Zatz; Dora Fix Ventura
Journal:  Am J Hum Genet       Date:  2007-04-13       Impact factor: 11.025

2.  DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.

Authors:  Edmond Wonkam-Tingang; Séraphin Nguefack; Alina I Esterhuizen; David Chelo; Ambroise Wonkam
Journal:  Mol Genet Genomic Med       Date:  2020-06-15       Impact factor: 2.473

  2 in total

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