This updated and expanded new edition of a successful book describes genetic diagnostic
entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as
a case study or as an overview from the literature accompanied by text presenting molecular
defects and differential diagnosis. This collection of neuromuscular disorders features the
differential clinical phenotypes related to each genotype and are representative of the whole
spectrum of a genetic muscle disorder helping the clinician and neuromuscular physician to
make a diagnosis. Key points for each genetic disease are identified to suggest treatment when
available or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular
Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
