title: Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.
abstract: OBJECTIVE
  To characterize the clinical phenotype of LGMD2C in gypsies.
  
  
  BACKGROUND
  Limb-girdle muscular dystrophy (LGMD) in gypsies of Western Europe is caused by a homozygous C283Y mutation on the same haplotype, suggesting a founder effect.
  
  
  METHODS
  We performed clinical, laboratory, and muscle imaging studies of 40 patients.
  
  
  RESULTS
  Mean age at onset was 5.3 years. One half of the patients had loss of ambulation by the age of 12; 13% still could walk after age 16. Calf hypertrophy, scapular winging, macroglossia, and lumbar hyperlordosis were common. Girdle, trunk, and proximal limb flexor muscles had earlier and more severe involvement. Cardiomyopathy was not observed. Five patients in the third decade of life required mechanical ventilation. Scoliosis was common in the nonambulatory stage.
  
  
  CONCLUSIONS
  LGMD2C in gypsy patients with C283Y mutation presents a rather homogeneous phenotype, characterized by an initial Duchenne-like progressive course followed by a more prolonged survival rate possibly due to the absence of early respiratory impairment and cardiac failure.
authors.affiliation: Muscle Clinic, Instituto Ortopedico Rizzoli, Bologna, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Merlini
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: C
authors.initials: C
authors.lastname: Navarro
authors.forename: A
authors.initials: A
authors.lastname: Barois
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: J
authors.initials: J
authors.lastname: Brasa
authors.forename: B
authors.initials: B
authors.lastname: Echenne
authors.forename: P
authors.initials: P
authors.lastname: Gallano
authors.forename: L
authors.initials: L
authors.lastname: Jarre
authors.forename: M
authors.initials: M
authors.lastname: Jeanpierre
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
authors.forename: F
authors.initials: F
authors.lastname: Leturcq
authors.forename: A
authors.initials: A
authors.lastname: Levi-Gomes
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: I
authors.initials: I
authors.lastname: Tournev
authors.forename: A
authors.initials: A
authors.lastname: Urtizberea
authors.forename: J M
authors.initials: JM
authors.lastname: Vallat
authors.forename: T
authors.initials: T
authors.lastname: Voit
authors.forename: J M
authors.initials: JM
authors.lastname: Warter
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D006178:Romani People
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins