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American Journal of Medical Genetics 79:412 (1998)
Book Review
Edited by Susan C. Brown and Jack A. Lucy.
Cambridge University Press, Cambridge, 1997,
338 pp.
In 1861, Duchenne first described ‘‘paraplégie hypertrophique,’’ and our understanding of the disease that
came to bear his name had changed little over the next
125 years. Then, in 1987, the dystrophin gene was described, heralding the coming of age of what used to be
called ‘‘reverse genetics’’ and promising new information regarding the pathophysiology of this devastating
disease. The subsarcolemmal location of the dystrophin
protein was demonstrated in 1988, allowing improved
diagnosis of Duchenne muscular dystrophy by biopsy (a
development that Duchenne, who invented the muscle
biopsy and whose own biopsy nedle remains the forerunner of all modern biopsy needles, likely would have
appreciated). Characterization of the gene mutations
in Duchenne and Becker muscular dystrophy have altered clinical practice, allowing prenatal diagnosis, but
in many ways this enormous gene (of more than 2.4
million base pairs, 79 exons, and many isoforms and
splice variants) remains enigmatic. This volume catalogues the developments of the past decade—which include many new questions as well as some answers—
and shows that in spite of the initial euphoria over the
characterization of the gene, the ultimate goal of useful
therapy remains elusive.
This text is written by acknowledged experts in the
field. As with all multi-authored texts, there is some
inevitable repetition between chapters. An example is
the several descriptions of the role of dystrophin at the
neuromuscular junction, the best of which is finally
found in a comprehensive chapter dedicated to that
© 1998 Wiley-Liss, Inc.
topic. The plus side of this, however, is that the smaller
discussions of any particular repeated topic fit entirely
within the theme of an individual chapter; the result is
that each chapter stands nicely alone as an introduction—or in some cases, as an exhaustive review—to a
particular aspect of dystrophin biology. Topics covered
range from gene structure (in a lucid chapter cataloguing genotype/phenotype correlations), through theories
of dystrophin function, to (in a curmudgeonly singleauthor chapter) a discussion of animal models for the
study of dystrophin-related disease. The organization
is clear, as are the discussions (with only minor complaints—for example, regarding the lack of consistency
between chapters in the use of acronyms for the dystrophin-associated protein complex).
This is a timely and authoritative work, but the emphasis implied by the subtitle should not be missed. It
is a book by and for basic scientists. Apart from the first
chapter, regarding the structure and mutation in the
dystrophin gene, there is little information of immediate relevance to a clinician. In the entire book there is
only one passing sentence mentioning the only therapeutic trial that has shown any alteration of the natural history of the disease. But clinical information is
clearly not the point of this work. This is a book about
the biology of dystrophin, lucid enough to serve as an
introduction to those less familiar with the field, but
comprehensive enough to be worthwhile to those with a
more active interest.
Kevin M. Flanigan
Departments of Neurology and Pathology and
Eccles Institute of Human Genetics
University of Utah
Salt Lake City, Utah
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