title: [Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case].
abstract: OBJECTIVE
  To investigate TCAP gene mutation and clinical features of a Chinese patient with limb-girdle muscular dystrophy type 2G(LGMD 2G).
  
  
  METHODS
  Clinical data of the patient was analyzed. Exons of the TCAP gene were amplified and sequenced.
  
  
  RESULTS
  The patient has presented clinically as LGMD and pathologically as vacuolar myopathy. Genetic analysis has identified compound heterozygous mutations of exons 1 and 2 of the TCAP gene(c.100delC, c.166insG).
  
  
  CONCLUSIONS
  LGMD is a group of neuromuscular disorders with substantial phenotypic heterogeneity. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.
authors.affiliation: Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, P.R. China. jiaojingsong@aliyun.com, wangrenbin@sina.com.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Hao
authors.forename: Renbin
authors.initials: R
authors.lastname: Wang
authors.forename: Miao
authors.initials: M
authors.lastname: Jin
authors.forename: Jinsong
authors.initials: J
authors.lastname: Jiao
mesh_terms: D000328:Adult; D001483:Base Sequence; D064211:Connectin / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D055815:Young Adult
chemical_list: D064211:Connectin; C577292:TCAP protein, human