title: [Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis].
abstract: OBJECTIVE
  To investigate a patient featuring a complex neuromuscular disease phenotype.
  
  
  METHODS
  A comprehensive analysis integrating clinical investigation, electrophysiological testing, pathological analysis and mutation screening was carried out.
  
  
  RESULTS
  The patient has presented clinical and pathological manifestations mimicking Duchenne muscular dystrophy. However, genetic analysis has identified no deletion in 21 exons of Dystrophin gene, no pathologic expansion of CTG repeats in DMPK gene or CCTG repeats in ZFN9 gene. Instead, a homozygous deletion of exons 7 and 8 in SMN gene was discovered.
  
  
  CONCLUSIONS
  A rare case of spinal muscular atrophy (SMA) was verified by genetic diagnosis. SMA is a group of neuromuscular disorders with great phenotypic heterogeneity and sometimes cannot be diagnosed by clinical manifestations, electrophysiological and pathological changes alone. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.
authors.affiliation: Department of Neurology, Central South University, Changsha, Hunan, People's Republic of China.
authors.forename: Li-xia
authors.initials: LX
authors.lastname: Luo
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D065636:Myotonin-Protein Kinase; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D055532:SMN Complex Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C585517:DMPK protein, human; D055532:SMN Complex Proteins; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases