Genetics of Neuromuscular Disorders

This book, Volume 306 in the series Progress in Clinical and Biological Research, is the record of the Fifth Inernational Clinical Genetics Seminar held in Crete, October 1988. Over 60 contributors from all over the world participated in this conference, and their individual papers comprise the volume. Six sections include the following topics: muscular dystrophies, spinal muscular atrophies, myotonic dystrophy, mitochondrial myopathies, glycogenoses, and a section which has a potpourri of unclassified neuromuscular disorders. The Aristoteles Commemorative Lecture discusses ethical issues in clinical genetics. Some of the papers constitute reviews of the state of the art in 1988; although the primary information is published elsewhere, these reviews have been written by prominent experts in those areas and are thus authoritative. Topics reviewed include "Gene Mapping and the Muscular Dystrophies" by Peter Harper and "Mitochondrial Encephalomyopathies" by Salvatore DiMauro. Baraitser presents a short summary of a classification of the inherited spinal muscular atrophies, which is a useful review. Other papers are reports of original work and include a report of apparent autosomal dominant inheritance of adult onset limb-girdle muscular dystrophy in two generations of a single family. The case report of mitochondrial disease presenting with glycogen storage is enzymatically undefined and not too convincing. Such a symposium must, by its nature, be limited in scope and cannot represent a complete review of even such a narrow field. Neverthelesss, there are some peculiar omissions. For example, Harper's review of the mapping of the muscular dystrophy genes discusses the use of X-autosomal translocations to identify the location of the DMD gene but fails to mention the importance of the X chromosomal deletions in that mapping story. The review by DiMauro on mitochondrial myopathies fails to cite some of Wallace's important work in identifying and elucidating several of the mitochondrial gene disorders. Nevertheless, this book provides a compilation of genetic information on a selection of inherited neuromuscular disorders of clinical importance. While this symposium will be a useful reference for the neurologist and the clinical geneticist, further reading will be necessary to acquire comprehensive details.