title: Childhood onset of limb-girdle muscular dystrophy.
abstract: Limb-girdle muscular dystrophies comprise a rare heterogeneous group of genetic muscular dystrophies, involving 15 autosomal recessive subtypes and seven autosomal dominant subtypes. Autosomal recessive dystrophy is far more common than autosomal dominant dystrophy. Typical clinical features include progressive limb muscle weakness and atrophy (proximal greater than distal), varying from very mild to severe. Significant overlap of clinical phenotypes, with genetic and clinical heterogeneity, constitutes the rule for this group of diseases. Muscle biopsies are useful for histopathologic and immunolabeling studies, and DNA analysis is the gold standard to establish the specific form of muscular dystrophy. A definitive diagnosis among various subtypes is challenging, and the data presented here provide neuromuscular clinicians with additional information to help attain that goal.
authors.affiliation: Neuromuscular Division, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, USA.
authors.forename: Xiomara Q
authors.initials: XQ
authors.lastname: Rosales
authors.forename: Roula
authors.initials: R
authors.lastname: al-Dahhak
authors.forename: Chang-Yong
authors.initials: CY
authors.lastname: Tsao
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D008040:Genetic Linkage; D006801:Humans; D008364:Mannosyltransferases / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000145:classification / Q000235:genetics / Q000473:pathology / Q000628:therapy
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins; D009124:Muscle Proteins; D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase