title: A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene.
abstract: BACKGROUND
  Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases of BMD with dysgnosia are extremely rare.
  
  
  METHODS
  We describe a 9-year-old boy with BMD, who presented with epilepsy and dysgnosia. Serum creatine kinase level was markedly elevated (3665 U/L). Wechsler intelligence tests showed a low intelligence quotient (IQ = 65). Electromyogram showed slight myogenic changes and skeletal muscle biopsy revealed muscular dystrophy. Immunohistochemical staining showed partial positivity of sarcolemma for dystrophin-N. Multiplex ligation-dependent probe amplification revealed a duplication mutation in exons 37-44 in the Dystrophin gene.
  
  
  CONCLUSIONS
  The present case report helps to better understand the clinical and genetic features of BMD.
authors.affiliation: Department of Neurology and Neuroscience Center, The First Affiliated Hospital of Jilin University, Changchun, 130021, Jilin, People's Republic of China.
authors.forename: Jing
authors.initials: J
authors.lastname: Miao
authors.affiliation: Department of Neurology and Neuroscience Center, The First Affiliated Hospital of Jilin University, Changchun, 130021, Jilin, People's Republic of China.
authors.forename: Jia-Chun
authors.initials: JC
authors.lastname: Feng
authors.affiliation: Department of Neurology and Neuroscience Center, The First Affiliated Hospital of Jilin University, Changchun, 130021, Jilin, People's Republic of China.
authors.forename: Dan
authors.initials: D
authors.lastname: Zhu
authors.affiliation: Department of Neurology and Neuroscience Center, The First Affiliated Hospital of Jilin University, Changchun, 130021, Jilin, People's Republic of China. dr_yuxuefan@126.com.
authors.forename: Xue-Fan
authors.initials: XF
authors.lastname: Yu
mesh_terms: D002648:Child; D016189:Dystrophin / Q000235:genetics*; D004576:Electromyography; D004827:Epilepsy / Q000209:etiology* / Q000473:pathology; D005091:Exons; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation
chemical_list: D016189:Dystrophin
keywords: Becker muscular dystrophy; Dysgnosia; Dystrophin; Epilepsy; Genetic analysis