title: Distal myopathies.
abstract: In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important to recognize are also considered, because they show prominent distal limb weakness.
authors.affiliation: Neuromuscular Section, Neurophysiology Division, Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA. Electronic address: mdimachkie@kumc.edu.
authors.forename: Mazen M
authors.initials: MM
authors.lastname: Dimachkie
authors.affiliation: Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA.
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Barohn
mesh_terms: D017668:Age of Onset; D018450:Disease Progression; D049310:Distal Myopathies / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009154:Mutation
chemical_list: D009124:Muscle Proteins
keywords: Distal myopathy; Laing myopathy; Markesbery-Griggs myopathy; Myofibrillar myopathy; Myoshi myopathy; Nonaka myopathy; Udd distal myopathy; Welander myopathy