Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1978 Oct;15(5):339–345. doi: 10.1136/jmg.15.5.339

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

A M Davie, A E Emery
PMCID: PMC1013728  PMID: 739522

Abstract

Using a number of different methods, it is confirmed that approximately one third of all cases of X-linked Duchenne muscular dystrophy are new mutants, the remainder being sons of carriers.

Full text

PDF
339

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BLYTH H., PUGH R. J. Muscular dystrophy in childhood; the genetic aspect; a field study in the Leeds region of clinical types and their inheritance. Ann Hum Genet. 1959 Apr;23(2):127–163. doi: 10.1111/j.1469-1809.1958.tb01457.x. [DOI] [PubMed] [Google Scholar]
  2. Dreyfus J. C., Schapira F., Demos J., Rosa R., Schapira G. The value of serum enzyme determinations in the identification of dystrophic carriers. Ann N Y Acad Sci. 1966 Sep 9;138(1):304–314. doi: 10.1111/j.1749-6632.1966.tb41172.x. [DOI] [PubMed] [Google Scholar]
  3. Emery A. E., Holloway S. Use of normal daughters' and sisters' creatine kinase levels in estimating heterozygosity in Duchenne muscular dystrophy. Hum Hered. 1977;27(2):118–126. doi: 10.1159/000152860. [DOI] [PubMed] [Google Scholar]
  4. Emery A. E., Morton R. Genetic counselling in lethal X-linked disorders. Acta Genet Stat Med. 1968;18(6):534–542. doi: 10.1159/000152177. [DOI] [PubMed] [Google Scholar]
  5. Gardner-Medwin D. Mutation rate in Duchenne type of muscular dystrophy. J Med Genet. 1970 Dec;7(4):334–337. doi: 10.1136/jmg.7.4.334. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. MORTON N. E., CHUNG C. S. Formal genetics of muscular dystrophy. Am J Hum Genet. 1959 Dec;11:360–379. [PMC free article] [PubMed] [Google Scholar]
  7. MORTON N. E. Genetic tests under incomplete ascertainment. Am J Hum Genet. 1959 Mar;11(1):1–16. [PMC free article] [PubMed] [Google Scholar]
  8. MOSER H., WIESMANN U., RICHTERICH R., ROSSI E. PROGRESSIVE MUSKELDYSTROPHIE. VI. HAEUFIGKEIT, KLINIK UND GENETIK DER DUCHENNE-FORM. Schweiz Med Wochenschr. 1964 Nov 14;94:1610–1621. [PubMed] [Google Scholar]
  9. Milhorat A. T., Goldstone L. The carrier state in muscular dystrophy of the Duchenne type. JAMA. 1965 Oct 11;194(2):130–134. [PubMed] [Google Scholar]
  10. Murphy E. A., Cramer D. W., Kryscio R. J., Brown C. C., Pierce E. R. Gonadal mosaicism and genetic counseling for X-linked recessive lethals. Am J Hum Genet. 1974 Mar;26(2):207–222. [PMC free article] [PubMed] [Google Scholar]
  11. PEARCE J. M., PENNINGTON R. J., WALTON J. N. SERUM ENZYME STUDIES IN MUSCLE DISEASE. III. SERUM CREATINE KINASE ACTIVITY IN RELATIVES OF PATIENTS WITH THE DUCHENNE TYPE OF MUSCULAR DYSTROPHY. J Neurol Neurosurg Psychiatry. 1964 Jun;27:181–185. doi: 10.1136/jnnp.27.3.181. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. PEARSON C. M., FOWLER W. M., WRIGHT S. W. X-chromosome mosaicism in females with muscular dystrophy. Proc Natl Acad Sci U S A. 1963 Jul;50:24–31. doi: 10.1073/pnas.50.1.24. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. ROTTHAUWE H. W., KOWALEWSKI S. KLINISCHE UND BIOCHEMISCHE UNTERSUCHUNGEN BEI MYOPATHIEN. I. SERUMENZYME BEI PROGRESSIVER MUSKELDYSTROPHIE (TYP I, II, IIIA) Klin Wochenschr. 1965 Feb 1;43:144–150. doi: 10.1007/BF01484506. [DOI] [PubMed] [Google Scholar]
  14. Rosalki S. B. An improved procedure for serum creatine phosphokinase determination. J Lab Clin Med. 1967 Apr;69(4):696–705. [PubMed] [Google Scholar]
  15. Roses A. D., Roses M. J., Metcalf B. S., Hull K. L., Nicholson G. A., Hartwig G. B., Roe C. R. Pedigree testing in Duchenne muscular dystrophy. Ann Neurol. 1977 Oct;2(4):271–278. doi: 10.1002/ana.410020403. [DOI] [PubMed] [Google Scholar]
  16. Roses A. D., Roses M. J., Miller S. E., Hull K. L., Jr, Appel S. H. Carrier detection in Duchenne muscular dystrophy. N Engl J Med. 1976 Jan 22;294(4):193–198. doi: 10.1056/NEJM197601222940404. [DOI] [PubMed] [Google Scholar]
  17. STEPHENS F. E., TYLER F. H. Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds. Am J Hum Genet. 1951 Jun;3(2):111–125. [PMC free article] [PubMed] [Google Scholar]
  18. STEVENSON A. C. MUSCULAR DYSTROPHY IN NORTHERN IRELAND. V. THE PROGRESS OF THE DISORDER IN BOYS WITH SEX-LINKED MUSCULAR DYSTROPHY WHO WERE FIRST STUDIED BETWEEN 1949 AND 1958. Ann Hum Genet. 1964 Jun;27:311–314. [PubMed] [Google Scholar]
  19. STEVENSON A. C. Muscular dystrophy in Northern Ireland, I. An account of the condition in fifty-one families. Ann Eugen. 1953 Jun;18(1):50–contd. doi: 10.1111/j.1469-1809.1952.tb02497.x. [DOI] [PubMed] [Google Scholar]
  20. STEVENSON A. C. Muscular dystrophy in Northern Ireland. II. An account of nine additional families. Ann Hum Genet. 1955 Feb;19(3):159–164. doi: 10.1111/j.1469-1809.1955.tb01340.x. [DOI] [PubMed] [Google Scholar]
  21. STEVENSON A. C. Muscular dystrophy in Northern Ireland. IV. Some additional data. Ann Hum Genet. 1958 May;22(3):231–234. doi: 10.1111/j.1469-1809.1958.tb01417.x. [DOI] [PubMed] [Google Scholar]
  22. Thompson M. W., Murphy E. G., McAlpine P. J. An assessment of the creatine kinase test in the detection of carriers of Duchenne muscular dystrophy. J Pediatr. 1967 Jul;71(1):82–93. doi: 10.1016/s0022-3476(67)80235-x. [DOI] [PubMed] [Google Scholar]
  23. Tyler F. H., Skolnick M. Letter: Mutation in Duchenne muscular dystrophy. N Engl J Med. 1976 Jul 29;295(5):283–284. doi: 10.1056/nejm197607292950521. [DOI] [PubMed] [Google Scholar]
  24. Vogel F., Rathenberg R. Spontaneous mutation in man. Adv Hum Genet. 1975;5:223–318. doi: 10.1007/978-1-4615-9068-2_4. [DOI] [PubMed] [Google Scholar]
  25. WALTON J. N., RACE R. R., PHILIP U. On the inheritance of muscular dystrophy; with a note on the blood groups, and a note on colour vision and linkage studies. Ann Hum Genet. 1955 Aug;20(1):1–38. doi: 10.1111/j.1469-1809.1955.tb01274.x. [DOI] [PubMed] [Google Scholar]
  26. WALTON J. N. The inheritance of muscular dystrophy: further observations. Ann Hum Genet. 1956 Jul;21(1):40–58. doi: 10.1111/j.1469-1809.1971.tb00264.x. [DOI] [PubMed] [Google Scholar]
  27. Zatz M., Frota-Pessoa O., Levy J. A., Peres C. A. Creatine-phosphokinase (CPK) activity in relatives of patients with X-linked muscular dystrophies: a Brazilian study. J Genet Hum. 1976 Jun;24(2):153–168. [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES