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Carrier detection in Duchenne muscular dystrophy.

Publication ,  Journal Article
Roses, AD; Roses, MJ; Miller, SE; Hull, KL; Appel, SH
Published in: N Engl J Med
January 22, 1976

We measured endogenous phosphorylation of peak II (apparent molecular weight of 220,000 daltons) of the erythrocyte membrane in 21 mothers of patients with Duchenne muscular dystrophy. The mean values of mothers with affected sons were significantly increased over those of matched controls (77.0 and 55.8 pmoles per milligram of 15-minute incubation; P less than 0.01). Detailed testing of mothers of affected sons revealed proximal muscle weakness. Seven mothers of isolated patients who had normal levels of creatine phosphokinase and no daughters with elevated levels were identified as carriers, because their mean value of peak II phosphorylation was increased (75.9 pmoles per milligram per 15 minutes) and equivalent to the level demonstrated in the 14 acknowledged carriers. Our results suggest that cases of Duchenne muscular dystrophy previously considered to be new mutations are much less common than estimated.

Duke Scholars

Published In

N Engl J Med

DOI

ISSN

0028-4793

Publication Date

January 22, 1976

Volume

294

Issue

4

Start / End Page

193 / 198

Location

United States

Related Subject Headings

  • Mutation
  • Muscular Dystrophies
  • Muscle Tonus
  • Male
  • Humans
  • General & Internal Medicine
  • Female
  • Erythrocytes
  • Creatine Kinase
  • Child, Preschool
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Roses, A. D., Roses, M. J., Miller, S. E., Hull, K. L., & Appel, S. H. (1976). Carrier detection in Duchenne muscular dystrophy. N Engl J Med, 294(4), 193–198. https://doi.org/10.1056/NEJM197601222940404
Roses, A. D., M. J. Roses, S. E. Miller, K. L. Hull, and S. H. Appel. “Carrier detection in Duchenne muscular dystrophy.N Engl J Med 294, no. 4 (January 22, 1976): 193–98. https://doi.org/10.1056/NEJM197601222940404.
Roses AD, Roses MJ, Miller SE, Hull KL, Appel SH. Carrier detection in Duchenne muscular dystrophy. N Engl J Med. 1976 Jan 22;294(4):193–8.
Roses, A. D., et al. “Carrier detection in Duchenne muscular dystrophy.N Engl J Med, vol. 294, no. 4, Jan. 1976, pp. 193–98. Pubmed, doi:10.1056/NEJM197601222940404.
Roses AD, Roses MJ, Miller SE, Hull KL, Appel SH. Carrier detection in Duchenne muscular dystrophy. N Engl J Med. 1976 Jan 22;294(4):193–198.
Journal cover image

Published In

N Engl J Med

DOI

ISSN

0028-4793

Publication Date

January 22, 1976

Volume

294

Issue

4

Start / End Page

193 / 198

Location

United States

Related Subject Headings

  • Mutation
  • Muscular Dystrophies
  • Muscle Tonus
  • Male
  • Humans
  • General & Internal Medicine
  • Female
  • Erythrocytes
  • Creatine Kinase
  • Child, Preschool