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Science 4 November 1988:
Vol. 242. no. 4879, pp. 755 - 759
DOI: 10.1126/science.3055295
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Articles

Science, Vol 242, Issue 4879, 755-759
Copyright © 1988 by American Association for the Advancement of Science

articles

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

SB Malhotra, KA Hart, HJ Klamut, NS Thomas, SE Bodrug, AH Burghes, M Bobrow, PS Harper, MW Thompson, PN Ray, and al. et

Genetics Department, Hospital for Sick Children, Toronto, Ontario, Canada.

Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested.


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Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy.
T. W. Prior and S. J. Bridgeman (2005)
J. Mol. Diagn. 7, 317-326
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Steroid Treatment and the Development of Scoliosis in Males with Duchenne Muscular Dystrophy.
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J. Bone Joint Surg. Am. 86, 519-524
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Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.
F Gualandi, C Trabanelli, P Rimessi, E Calzolari, L Toffolatti, T Patarnello, G Kunz, F Muntoni, and A Ferlini (2003)
J. Med. Genet. 40, e100-100
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Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle.
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Physiol Rev 82, 291-329
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N-terminal RAG1 frameshift mutations in Omenn's syndrome: Internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
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PNAS 97, 14572-14577
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Dissociation of Sarcoglycans and the Dystrophin Carboxyl Terminus From the Sarcolemma in Enteroviral Cardiomyopathy.
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Circ. Res. 87, 489-495
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Evidence for a Dystrophin Missense Mutation as a Cause of X-Linked Dilated Cardiomyopathy.
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Independent localization of dystrophin N- and C-terminal regions to the sarcolemma of mdx mouse myofibres in vivo.
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Centronuclear Myopathy and Type-1 Hypotrophy Without Central Nuclei: Distinct Nosologic Entities?.
W. D. Lo, R. J. Barohn, R. J. Bobulski, J. Kean, and J. R. Mendell (1990)
Arch Neurol 47, 273-276
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The Duchenne Dystrophy Story: From Phenotype to Gene and Potential Treatment.
V. Dubowitz (1989)
J Child Neurol 4, 240-250
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Review Article: Dystrophin-Related Muscular Dystrophies.
J.A. Witkowski (1989)
J Child Neurol 4, 251-271
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