Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/female-carriers-of-duchenne-muscular-dystrophy-a-dilemma-QQA2DYUg9u
References (16)
-
(1982)
De 1'Electrisation Locah e et de son Application a la Pathologie et a la Therapeutique Ed. 3. J B Balhere and Sons -
R. Gardner, M. Lyon (1971)
Biological Sciences: X Chromosome Inactivation studied by Injection of a Single Cell into the Mouse BlastocystNature, 231
-
R. Lindenbaum, G. Clarke, C. Patel, M. Moncrieff, J. Hughes (1979)
Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.Journal of Medical Genetics, 16
-
H. Kloepfer, C. Talley (1957)
AUTOSOMAL RECESSIVE INHERITANCE OF DUCHENNE‐TYPE MUSCULAR DYSTROPHYAnnals of Human Genetics, 22
-
J. Murray, J. Murray, K. Davies, P. Harper, L. Meredith, C. Mueller, R. Williamson (1982)
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophyNature, 300
-
M. Gómez, A. Engel, G. Dewald, H. Peterson (1977)
Failure of inactivation of Duchenne dystrophy X‐chromosome in one of female identical twinsNeurology, 27
-
(1954)
L'heredite de la myopathie (formes basses) -
J. Walton (1957)
The inheritance of muscular dystrophy.Acta genetica et statistica medica, 7 2
-
A. Emery, R. Skinner, S. Holloway (1979)
A study of possible heterogeneity in Duchenne muscular dystrophyClinical Genetics, 15
-
(1928)
Zur Kenntnis der Dystrophia musculorum progressiva und ihren Vererbung -
A. Monaco, C. Bertelson, W. Middlesworth, C. Colletti, J. Aldridge, K. Fischbeck, R. Bartlett, M. Pericak-Vance, A. Roses, L. Kunkel (1985)
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segmentNature, 316
-
M. Hofker, M. Wapenaar, N. Goor, E. Bakker, G. Ommen, P. Pearson (1985)
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophyHuman Genetics, 70
-
A. Monaco, R. Neve, C. Colletti-Feener, C. Bertelson, D. Kurnit, L. Kunkel (1986)
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy geneNature, 323
-
P. Leslie (2020)
Muscular Dystrophy.Canadian Medical Association journal, 15 1
-
F. Tyler, M. Wintrobe (1950)
Studies in disorders of muscle; the problem of progressive muscular dystrophy.Annals of internal medicine, 32 1
-
V. Lindgren, B. Martinville, A. Horwich, L. Rosenberg, U. Francke (1984)
Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.Science, 226 4675
- Publisher
- Wiley
- Copyright
- 1987 Blackwell Munksgaard
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- DOI
- 10.1111/j.1399-0004.1987.tb02810.x
- Publisher site
- See Article on Publisher Site
Abstract
In this paper female non-identical twins of a known Duchenne carrier are presented; one has typical features and the anticipated progression of Duchenne dystrophy, the other appears to be normal. In addition, two female children with Duchenne-like dystrophy are discussed. These cases show no evidence of translocation or mosaicism and offer an opportunity to reappraise the genetics of Duchenne dystrophy with specific regard to females. The subjects have been fully investigated, and in Case 3 the glycolytic enzymes and mitochondrial energy-producing capacity were also studied.
Journal
Clinical Genetics – Wiley
Published: May 1, 1987
Keywords: Key words:; Duchenne dystrophy; female; Lyonisation; translocation