Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1963 Jun;15(2):133–154.

Progressive Muscular Dystrophy. V. The Identification of the Carrier State in the Duchenne Type by Serum Creatine Kinase Determination

R Richterich, S Rosin, U Aebi, E Rossi
PMCID: PMC1932227  PMID: 17948483

Full text

PDF
154

Selected References

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

  1. AEBI U., RICHTERICH R., COLOMBO J. P., ROSSI E. Progressive muscular dystrophy. II. Biochemical identification of the carrier state in the recessive sex-linked juvennile (Duchenne) type by serum creatine-phosphokinase determinations. Epilepsia. 1961;1:61–74. [PubMed] [Google Scholar]
  2. AEBI U., RICHTERICH R., STILLHART H., COLOMBO J. P., ROSSI E. [Progressive muscular dystrophy. III. Serum enzymes in muscular dystrophy in childhood]. Helv Paediatr Acta. 1961 Dec;16:543–564. [PubMed] [Google Scholar]
  3. BAKER R. W., EVANS J. H. Serum aldolase and the diagnosis of myopathy. Brain. 1957 Dec;80(4):557–570. doi: 10.1093/brain/80.4.557. [DOI] [PubMed] [Google Scholar]
  4. BAUMANN P., ESCHER J., RICHTERICH R. [The behavior of serum enzymes in muscular work]. Schweiz Z Sportmed. 1962;10:33–51. [PubMed] [Google Scholar]
  5. BECKER P. E. Neue Ergebnisse der Genetik der Muskeldystrophien. Acta Genet Stat Med. 1957;7(2):303–310. [PubMed] [Google Scholar]
  6. 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]
  7. CHEESEMAN E. A., KILPATRICK S. J., STEVENSON A. C., SMITH C. A. The sex ratio of mutation rates of sex-linked recessive genes in man with particular reference to Duchenne type muscular dystrophy. Ann Hum Genet. 1958 May;22(3):235–243. doi: 10.1111/j.1469-1809.1958.tb01418.x. [DOI] [PubMed] [Google Scholar]
  8. CHUNG C. S., MORTON N. E. Discrimination of genetic entities in muscular dystrophy. Am J Hum Genet. 1959 Dec;11:339–359. [PMC free article] [PubMed] [Google Scholar]
  9. CHUNG C. S., MORTON N. E., PETERS H. A. Serum enzymes and genetic carriers in muscular dystrophy. Am J Hum Genet. 1960 Mar;12:52–66. [PMC free article] [PubMed] [Google Scholar]
  10. DREYFUS J. C., SCHAPIRA G., DEMOS J. [Study of serum creatine kinase in myopathic patients and their families]. Rev Fr Etud Clin Biol. 1960 Apr;5:384–386. [PubMed] [Google Scholar]
  11. DREYFUS J. C., SCHAPIRA G. [Biochemistry of progressive muscular dystrophy]. Klin Wochenschr. 1962 Apr 15;40:373–379. doi: 10.1007/BF01732835. [DOI] [PubMed] [Google Scholar]
  12. DUBOWITZ V. Progressive muscular dystrophy of the Duchenne type in females and its mode of inheritance. Brain. 1960 Sep;83:432–439. doi: 10.1093/brain/83.3.432. [DOI] [PubMed] [Google Scholar]
  13. HALDANE J. B. Mutation in the sex-linked recessive type of muscular dystrophy; a possible sex difference. Ann Hum Genet. 1956 May;20(4):344–347. doi: 10.1111/j.1469-1809.1955.tb01289.x. [DOI] [PubMed] [Google Scholar]
  14. KLOEPFER H. W., TALLEY C. Autosomal recessive inheritance of Duchennetype muscular dystrophy. Ann Hum Genet. 1958 Feb;22(2):138–143. doi: 10.1111/j.1469-1809.1957.tb01928.x. [DOI] [PubMed] [Google Scholar]
  15. LEYBURN P., THOMSON W. H., WALTON J. N. An investigation of the carrier state in the Duchenne type muscular dystrophy. Ann Hum Genet. 1961 May;25:41–49. doi: 10.1111/j.1469-1809.1961.tb01495.x. [DOI] [PubMed] [Google Scholar]
  16. 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]
  17. Meister A. Adenosinetriphosphatase Activity of Human Serum. Science. 1947 Aug 22;106(2747):167–168. doi: 10.1126/science.106.2747.167. [DOI] [PubMed] [Google Scholar]
  18. OKINAKA S., KUMAGAI H., EBASHI S., SUGITA H., MOMOI H., TOYOKURA Y., FUJIE Y. Serum creatine phosphokinase. Activity in progressive muscular dystrophy and neuromuscular diseases. Arch Neurol. 1961 May;4:520–525. doi: 10.1001/archneur.1961.00450110050006. [DOI] [PubMed] [Google Scholar]
  19. OLIVER I. T. A spectrophotometric method for the determination of creatine phosphokinase and myokinase. Biochem J. 1955 Sep;61(1):116–122. doi: 10.1042/bj0610116. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. PHILIP U., SMITH C. A., WALTON J. N. Colour blindness and the Duchenne-type muscular dystrophy. Ann Hum Genet. 1956 Nov;21(2):155–158. doi: 10.1111/j.1469-1809.1971.tb00276.x. [DOI] [PubMed] [Google Scholar]
  21. RICHTERICH R., VERREY F., GAUTIER R., STAMPFLI K. [Serum enzymes in blood donors. I. Oxalacetic and pyruvic transaminases in recruits with an anamnesis of jaundice]. Schweiz Med Wochenschr. 1961 May 20;91:601–605. [PubMed] [Google Scholar]
  22. ROTTHAUWE H. W., ZURUKZOGLU-SKLAVOUNOU S., HAMMANN H. [Research on the methodology of activity determination of creatine phosphokinase]. Klin Wochenschr. 1961 Dec 15;39:1269–1275. doi: 10.1007/BF01481966. [DOI] [PubMed] [Google Scholar]
  23. SOLTAN H. C., BLANCHAER M. C. Activity of serum aldolase and lactic dehydrogenase in patients affected with Duchenne muscular dystrophy and in their immediate relatives. J Pediatr. 1959 Jan;54(1):27–33. doi: 10.1016/s0022-3476(59)80033-0. [DOI] [PubMed] [Google Scholar]
  24. 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]
  25. TANZER M. L., GILVARG C. Creatine and creatine kinase measurement. J Biol Chem. 1959 Dec;234:3201–3204. [PubMed] [Google Scholar]
  26. THOMPSON R. A., VIGNOS P. J., Jr Serum aldolase in muscle disease. AMA Arch Intern Med. 1959 Apr;103(4):551–564. doi: 10.1001/archinte.1959.00270040037004. [DOI] [PubMed] [Google Scholar]
  27. TYLER F. H., STEPHENS F. E. Studies in disorders of muscle. IV. The clinical manifestations and inheritance of childhood progressive muscular dystrophy. Ann Intern Med. 1951 Jul;35(1):169–185. doi: 10.7326/0003-4819-35-1-169. [DOI] [PubMed] [Google Scholar]
  28. WACHSTEIN M., SIGISMONDI R. 5-Nucleotidase activity and adenosine triphosphatase activity in human serums. Am J Clin Pathol. 1958 Dec;30(6):523–527. doi: 10.1093/ajcp/30.6.523. [DOI] [PubMed] [Google Scholar]
  29. WALTON J. N., NATTRASS F. J. On the classification, natural history and treatment of the myopathies. Brain. 1954;77(2):169–231. doi: 10.1093/brain/77.2.169. [DOI] [PubMed] [Google Scholar]
  30. 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]
  31. 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]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES