title: [Gamma-sarcoglycanopathy:two new cases in a gypsy family family in Spain].
abstract: BACKGROUND
  Included under the heading of limb girdle muscular dystrophy is a heterogeneous group of myopathies which share the same phenotype characteristics. The illness is of early onset, progressive and basically involves muscles of the shoulder and pelvic girdles. Recent identification of muscle proteins and the genes which codify them has led to new classification of these conditions according to their genetic characteristics. It is currently accepted that there are two major groups: the dominant and recessive forms. The latter includes type 2C limb girdle muscular dystrophy associated with chromosome 13, where the gene for gamma-sarcoglycan is found. This protein belongs to the glycoprotein complex associated with dystrophin. Recently a new mutation has been identified, the C283Y, exclusive to the Gypsy race, which affects this gene and therefore the alterations in gamma-sarcoglycan produced by it.
  
  
  METHODS
  We describe two patients, Gypsy brothers, who complained of myopathy, which they had had for some years, compatible with this condition and in whom the C283Y mutation had recently been detected.
  
  
  CONCLUSIONS
  We describe another Spanish Gypsy family, all members of which have the characteristic mutation. We emphasize the importance of genetic studies in all cases of myopathy which have not been fully diagnosed.
authors.affiliation: Servicio de Neurología, Hospital 12 de Octubre, Madrid, España. ingmorales@hotmail.com
authors.forename: I
authors.initials: I
authors.lastname: García-Morales
authors.forename: L
authors.initials: L
authors.lastname: Galán
authors.forename: F
authors.initials: F
authors.lastname: Mateos
authors.forename: R
authors.initials: R
authors.lastname: Simón
authors.forename: P
authors.initials: P
authors.lastname: Morales
authors.forename: A
authors.initials: A
authors.lastname: Cabello
authors.forename: C
authors.initials: C
authors.lastname: Gómez-Escalonilla
mesh_terms: D001706:Biopsy; D002462:Cell Membrane / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D016189:Dystrophin / Q000172:deficiency; D004576:Electromyography / Q000379:methods; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics; D006178:Romani People; D013030:Spain; D014960:X Chromosome / Q000235:genetics
chemical_list: D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008562:Membrane Glycoproteins; D003402:Creatine Kinase