title: Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.
abstract: BACKGROUND
  Calpain 3 deficiency causes limb girdle muscular dystrophy type 2A, which is one of the most common forms of limb girdle muscular dystrophy. Nevertheless, calpainopathy is not always associated with mutations in the specific gene and secondary reduction in protein expression has been described.
  
  
  METHODS
  We report a case of a 43-year-old man who complained of thigh muscle stiffness and had muscle hypertrophy of both vastus medialis with prolonged myotonic contraction by percussion. A muscle biopsy showed dystrophic features and calpain 3 deficiency was shown by immunoblot analysis although mutations in the specific gene were not found. Known cases of secondary calpain 3 protein deficiency were ruled out and mutations in MD1 and MD2 genes were excluded.
  
  
  CONCLUSIONS
  This patient represents the first case of calpain 3 deficiency with selective pseudohypertrophy of vastus medialis muscles.
authors.affiliation: Department of Neurological Sciences and Vision, Section of Clinical Neurology, University of Verona, Verona, Italy.
authors.forename: Gaetano
authors.initials: G
authors.lastname: Vattemi
authors.forename: Marcella
authors.initials: M
authors.lastname: Neri
authors.forename: Matteo
authors.initials: M
authors.lastname: Marini
authors.forename: Francesca
authors.initials: F
authors.lastname: Gualandi
authors.forename: Paola
authors.initials: P
authors.lastname: Tonin
authors.forename: Laura
authors.initials: L
authors.lastname: Bertolasi
authors.forename: Valeria
authors.initials: V
authors.lastname: Guglielmi
authors.forename: Claudio
authors.initials: C
authors.lastname: Catalli
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.forename: Giuliano
authors.initials: G
authors.lastname: Tomelleri
mesh_terms: D000328:Adult; D001706:Biopsy; D002154:Calpain / Q000172:deficiency* / Q000235:genetics; D004576:Electromyography; D006801:Humans; D006984:Hypertrophy; D008297:Male; D009124:Muscle Proteins / Q000172:deficiency* / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D052097:Quadriceps Muscle / Q000473:pathology* / Q000503:physiopathology
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain