𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Diagnostic criteria for neuromuscular disorders

✍ Scribed by Flanigan, Kevin M.


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
1 KB
Volume
79
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19981012)79:5<411::aid-ajmg19>3.0.co;2-u

No coin nor oath required. For personal study only.

✦ Synopsis


This book is the result of years of work by the European Neuromuscular Centre (ENMC) is assembling workshops of experts to define consensus criteria in each category of neuromuscular disease. The goal of the ENMC has been to promulgate these criteria in order to facilitate proper diagnosis of these diseases and make reliable clinical and genetic studies possibly. This slim volume is the result of this work and will serve well the purposes for which it was published. Most of the criteria contained herein have been published at intervals in the journal Neuromuscular Disorders. That fine journal, however, is not on the standard journal list of many medical libraries. Even if one's library subscribes, this book's publication price of $20.00 is a reasonable cost to have all the criteria readily available in one place.

One would be hard pressed to find fault with this book. The biggest fault is that it is not very readable, but it is not intended to be. Its mission is admirable and well executed. While more common illnesses are represented (such as inclusion body myositis), the greatest use of the consensus criteria may be in facilitating diagnosis of rarer syndromes. In these cases collaboration-even between continents-may be necessary, and accurate phenotyping is, as always, the necessary precursor to genetic characterization.

In short, this little book belongs on the shelf of every neuromuscular physician with a busy clinic, as well as that of every geneticist with an interest in neuromuscular disease.


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