title: The limb-girdle muscular dystrophies.
abstract: A collection of more than 30 genetic muscle diseases that share certain key features, limb-girdle muscular dystrophies are characterized by progressive weakness and muscle atrophy of the hips, shoulders, and proximal extremity muscles with postnatal onset. This article discusses clinical, laboratory, and histologic features of the 6 most prevalent limb-girdle dystrophies. In this large group of disorders, certain distinctive features often can guide clinicians to a correct diagnosis.
authors.affiliation: Departments of Neurology and Pediatrics, Penn State College of Medicine, Penn State University, EC037, 30 Hope Drive, Hershey, PA 17033, USA. Electronic address: mwicklund@hmc.psu.edu.
authors.forename: Matthew P
authors.initials: MP
authors.lastname: Wicklund
authors.affiliation: Departments of Neurology and Pediatrics, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, 7th Floor, Columbus, OH 43210, USA.
authors.forename: John T
authors.initials: JT
authors.lastname: Kissel
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D055815:Young Adult
chemical_list: D009124:Muscle Proteins
keywords: Anoctamin 5; Calpain 3; Dysferlin; Fukutin-related protein; Lamin A/C; Limb-girdle muscular dystrophy; Sarcoglycan