title: Coexistence of peripheral myelin protein 22 and dystrophin mutations in a chinese boy.
abstract: BACKGROUND
  We describe a 10-year-old Chinese boy with features of Charcot-Marie-Tooth disease (CMT) and Duchenne muscular dystrophy (DMD).
  
  
  METHODS
  Case report.
  
  
  RESULTS
  Weakness and mild sensory loss in the distal extremities, pes cavus, and nerve conduction findings suggested demyelinating neuropathy, while moderate calf pseudohypertrophy, proximal muscle weakness, a myopathic pattern on electromyography, and deficiency of dystrophin immunohistochemical staining on muscle biopsy indicated DMD. Genetic testing revealed a large deletion spanning exon 50 in the gene coding for dystrophin and duplications in the gene coding for peripheral myelin protein 22.
  
  
  CONCLUSIONS
  This is an interesting and very rare case of CMT type 1A comorbid with DMD. This results in an unusual phenotype and rapid deterioration of motor function. Usage of both target region capture and next generation sequencing is a powerful tool for predicting precisely the range of the large DNA fragment deletion in DMD.
authors.affiliation: Department of Neurology, Chinese PLA General Hospital, 28 Fu Xing Road, Beijing, 100853, China; Chinese PLA 421 Central Hospital, Guangdong province, Guangzhou, China.
authors.forename: Zhanjun
authors.initials: Z
authors.lastname: Wang
authors.forename: Fang
authors.initials: F
authors.lastname: Cui
authors.forename: Dajun
authors.initials: D
authors.lastname: Chen
authors.forename: Chuanqiang
authors.initials: C
authors.lastname: Pu
authors.forename: Zhaohui
authors.initials: Z
authors.lastname: Chen
authors.forename: Fei
authors.initials: F
authors.lastname: Yang
authors.forename: Honghu
authors.initials: H
authors.lastname: Wu
authors.forename: Xusheng
authors.initials: X
authors.lastname: Huang
mesh_terms: D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004568:Electrodiagnosis; D005192:Family Health; D005820:Genetic Testing; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human
keywords: Charcot-Marie-Tooth disease type1A; Duchenne muscular dystrophy; next generation sequencing; sequence deletion; target region capture