title: A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.
abstract: BACKGROUND
  Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A/C gene mutations has been published. The concept that lamin A/C gene mutations cause spinal muscular atrophy has not been established.
  
  
  METHODS
  We report a man aged 65 years who presented with amyotrophy of lower limbs, arrhythmia and cardiac hypofunction. He showed gait disturbance since childhood, and his family showed similar symptoms. Neurological and electrophysiological findings suggested spinal muscular atrophy type 3. Gene analysis of lamin A/C gene showed a novel nonsense mutation p.Q353X (c.1057C > T). Further investigations revealed that he and his family members had cardiac diseases including atrioventricular block.
  
  
  CONCLUSIONS
  We report the first Japanese case of spinal muscular atrophy phenotype associated with lamin A/C mutation. When a patient presents a spinal muscular atrophy phenotype and unexplained cardiac disease, especially when the family history is positive, gene analysis of lamin A/C gene should be considered.
authors.affiliation: Department of Neurology, School of Medicine, Sapporo Medical University, South 1 West 16, Chuo-ku, Sapporo, 060-8543, Japan. n.iwahara@sapmed.ac.jp.
authors.forename: Naotoshi
authors.initials: N
authors.lastname: Iwahara
authors.affiliation: Department of Neurology, School of Medicine, Sapporo Medical University, South 1 West 16, Chuo-ku, Sapporo, 060-8543, Japan. hisahara@sapmed.ac.jp.
authors.forename: Shin
authors.initials: S
authors.lastname: Hisahara
authors.affiliation: Department of Neurology, School of Medicine, Sapporo Medical University, South 1 West 16, Chuo-ku, Sapporo, 060-8543, Japan. takashi@sapmed.ac.jp.|Department of Pharmacology, School of Medicine, Sapporo Medical University, South 1 West 16, Chuo-ku, Sapporo, 060-8543, Japan. takashi@sapmed.ac.jp.
authors.forename: Takashi
authors.initials: T
authors.lastname: Hayashi
authors.affiliation: Department of Neurology, School of Medicine, Sapporo Medical University, South 1 West 16, Chuo-ku, Sapporo, 060-8543, Japan. jkawamata@sapmed.ac.jp.
authors.forename: Jun
authors.initials: J
authors.lastname: Kawamata
authors.affiliation: Department of Neurology, School of Medicine, Sapporo Medical University, South 1 West 16, Chuo-ku, Sapporo, 060-8543, Japan. shimoha@sapmed.ac.jp.
authors.forename: Shun
authors.initials: S
authors.lastname: Shimohama
mesh_terms: D000368:Aged; D001145:Arrhythmias, Cardiac / Q000209:etiology*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009154:Mutation; D010641:Phenotype
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A