A Method for the Detection of Carriers of Duchenne Muscular Dystrophy--a Preliminary Report

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1981 Nov 1

PMID 7325161

Citations 2

Authors

G MONCKTON

H Marusyk

E Pehowich

Affiliations

Soon will be listed here.

Abstract

This report of a method to detect carriers of Duchenne muscular dystrophy describes a technique of tissue autoradiography that identifies increased uptake of [(3)H]leucine into some individual muscle fibers in muscle biopsies. Three obligate and seven of 11 sisters of affected boys are identified as carriers in this series. This method of identification may be of value in identifying those carriers undetected by other means, but remains to be further evaluated.

Citing Articles

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

MONCKTON G, Zatz M, Mion C, Marusyk H Am J Hum Genet. 1984; 36(4):926-30.

PMID: 6475962 PMC: 1684495.

Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Moser H Hum Genet. 1984; 66(1):17-40.

PMID: 6365739 DOI: 10.1007/BF00275183.

References

IONASESCU V, ZELLWEGER H, CONWAY T . A new approach for carrier detection in Duchenne muscular dystrophy. Protein synthesis of muscle polyribosomes in vitro. Neurology. 1971; 21(7):703-9. DOI: 10.1212/wnl.21.7.703. View

MONCKTON G, Marusyk H . The incorporation of 3H (G) L-leucine into single muscle fibers in Duchenne dystrophy and Charcot-Marie Tooth disease. Can J Neurol Sci. 1979; 6(1):53-7. DOI: 10.1017/s0317167100119377. View

Percy M, Chang L, Murphy E, Oss I, Verellen-Dumoulin C, Thompson M . Serum creatine kinase and pyruvate kinase in Duchenne muscular dystrophy carrier detection. Muscle Nerve. 1979; 2(5):329-39. DOI: 10.1002/mus.880020503. View

Roy S, Dubowitz V . Carrier detection in Duchenne muscular dystrophy. A comparative study of electron microscopy, light microscopy and serum enzymes. J Neurol Sci. 1970; 11(1):65-79. DOI: 10.1016/0022-510x(70)90041-9. View

Radu H, Migea S, Torok Z, Bordeianu L, Radu A . Carrier detection in X-linked Duchenne type muscular dystrophy. A pluridimensional investigation. J Neurol Sci. 1968; 6(2):289-300. DOI: 10.1016/0022-510x(68)90097-x. View

Fischer H, Korr H, Thiele H, Werner G . [Shorter autoradiographic exposition of electron microscopic preparations by scintillators]. Naturwissenschaften. 1971; 58(2):101-2. DOI: 10.1007/BF00595037. View

DREYFUS J, SCHAPIRA G, Demos J . [Study of serum creatine kinase in myopathic patients and their families]. Rev Fr Etud Clin Biol. 1960; 5:384-6. View

Gordon P, Stuart J . Proceedings: Red cell cytochemistry in glucose-6-phosphate dehydrogenase deficiency. Br J Haematol. 1974; 27(2):358. View

Mintz B, BAKER W . Normal mammalian muscle differentiation and gene control of isocitrate dehydrogenase synthesis. Proc Natl Acad Sci U S A. 1967; 58(2):592-8. PMC: 335676. DOI: 10.1073/pnas.58.2.592. View

10.

Dubowitz V . MYOPATHIC CHANGES IN MUSCULAR DYSTROPHY CARRIERS. Proc R Soc Med. 1963; 56:810-2. PMC: 1897185. View

11.

MILHORAT A, SHAFIQ S, Goldstone L . Changes in muscle structure in dystrophic patients, carriers and normal siblings seen by electron microscopy; correlation with levels of serum creatinephosphokinase (CPK). Ann N Y Acad Sci. 1966; 138(1):246-92. DOI: 10.1111/j.1749-6632.1966.tb41170.x. View

12.

Gomez M, Engel A, Dewald G, Peterson H . Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins. Neurology. 1977; 27(6):537-41. DOI: 10.1212/wnl.27.6.537. View

13.

Lyon M . Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet. 1962; 14:135-48. PMC: 1932279. View

14.

Sage J, Inati Y, Samaha F . The importance of serum pyruvate kinase in neuromuscular diseases and carrier states. Muscle Nerve. 1979; 2(5):390-3. DOI: 10.1002/mus.880020511. View

15.

Lyon M . Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961; 190:372-3. DOI: 10.1038/190372a0. View

16.

MONCKTON G, Marusyk H . The uptake of 3H(G)L leucine into single muscle fibers in Charcot-Marine-Tooth disease. Can J Neurol Sci. 1978; 5(2):199-204. DOI: 10.1017/s0317167100024550. View

17.

Fairbanks V, Lampe L . A tetrazolium-linked cytochemical method for estimation of glucose-6-phosphate dehydrogenase activity in individual erythrocytes: applications in the study of heterozygotes for glucose-6-phosphate dehydrogenase deficiency. Blood. 1968; 31(5):589-603. View

18.

Moosa A, Brown B, Dubowitz V . Quantitative electromyography: carrier detection in Duchenne type muscular dystrophy using a new automatic technique. J Neurol Neurosurg Psychiatry. 1972; 35(6):841-4. PMC: 494190. DOI: 10.1136/jnnp.35.6.841. View