title: [Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene].
abstract: OBJECTIVE
  To study clinical/genetic characteristics of congenital muscular dystrophy caused by mutations in the LMNA gene in 5 patients from the Russian population.
  
  
  METHODS
  DNA samples of 42 probands, aged from 2 months to 9 years, with characteristic signs of congenital muscular dystrophy from nonrelated families were studied. The diagnosis was based on the results of genealogical analysis, neurological examination, serum creatine phosphokinase activity, results of electroneuromyography.
  
  
  CONCLUSIONS
  In the Russian population, the frequency of congenital muscular dystrophy caused by mutations in the LMNA gene is not less than 12% of all cases of this group of diseases. The results indicate the presence of major mutation c.94_96delAAC in the LMNA gene. Specific phenotypic features of this form of congenital muscular dystrophy with symptoms of progressive flaccid paralysis with predominant lesions of axial muscles and plantar flexor muscles of the foot are described.
authors.affiliation: Research centre for medical genetics, Moskow.
authors.forename: E L
authors.initials: EL
authors.lastname: Dadali
authors.affiliation: Research centre for medical genetics, Moskow.
authors.forename: I V
authors.initials: IV
authors.lastname: Sharkova
authors.affiliation: Research centre for medical genetics, Moskow.
authors.forename: T A
authors.initials: TA
authors.lastname: Adyan
authors.affiliation: Research centre for medical genetics, Moskow.
authors.forename: T B
authors.initials: TB
authors.lastname: Milovidova
authors.affiliation: Research centre for medical genetics, Moskow.
authors.forename: А V
authors.initials: АV
authors.lastname: Polakov
mesh_terms: D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D004576:Electromyography; D005260:Female; D006801:Humans; D007223:Infant; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D012426:Russia
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D003402:Creatine Kinase