title: Immunodetection analysis of muscular dystrophies in Mexico.
abstract: BACKGROUND
  The muscular dystrophies (MDs) result from perturbations in the myofibers. These alterations are induced in part by mechanical stress due to membrane cell fragility, disturbances in mechanotransduction pathways, muscle cell physiology, and metabolism.
  
  
  METHODS
  We analyzed 290 biopsies of patients with a clinical diagnosis of muscular dystrophy. Using immunofluorescence staining, we searched for primary and secondary deficiencies of 12 different proteins, including membrane, costamere, cytoskeletal, and nuclear proteins. In addition, we analyzed calpain-3 by immunoblot.
  
  
  RESULTS
  We identified 212 patients with varying degrees of protein deficiencies, including dystrophin, sarcoglycans, dysferlin, caveolin-3, calpain-3, emerin, and merosin. Moreover, 78 biopsies showed normal expression of all investigated muscle proteins. The frequency rates of protein deficiencies were as follows: 52.36% dystrophinopathies; 18.40% dysferlinopathies; 14.15% sarcoglycanopathies; 11.32% calpainopathies; 1.89% merosinopathies; 1.42% caveolinopathies; and 0.47% emerinopathies. Deficiencies in lamin A/C and telethonin were not detected.
  
  
  CONCLUSIONS
  We have described the frequency of common muscular dystrophies in Mexico.
authors.affiliation: Departamento de Morfología Celular y Molecular, Instituto Nacional de Rehabilitación, Secretaría de Salud, Mexico City, México.
authors.forename: Benjamín
authors.initials: B
authors.lastname: Gómez-Díaz
authors.forename: Haydeé
authors.initials: H
authors.lastname: Rosas-Vargas
authors.forename: Bladimir
authors.initials: B
authors.lastname: Roque-Ramírez
authors.forename: Pedro
authors.initials: P
authors.lastname: Meza-Espinoza
authors.forename: Luis A
authors.initials: LA
authors.lastname: Ruano-Calderón
authors.forename: Francisca
authors.initials: F
authors.lastname: Fernández-Valverde
authors.forename: Deyanira
authors.initials: D
authors.lastname: Escalante-Bautista
authors.forename: Rosa E
authors.initials: RE
authors.lastname: Escobar-Cedillo
authors.forename: Laura
authors.initials: L
authors.lastname: Sánchez-Chapul
authors.forename: Steven
authors.initials: S
authors.lastname: Vargas-Cañas
authors.forename: Luz B
authors.initials: LB
authors.lastname: López-Hernández
authors.forename: Eliganty
authors.initials: E
authors.lastname: Bahena-Martínez
authors.forename: Alexandra B
authors.initials: AB
authors.lastname: Luna-Angulo
authors.forename: Patricia
authors.initials: P
authors.lastname: Canto
authors.forename: Ramón M
authors.initials: RM
authors.lastname: Coral-Vázquez
mesh_terms: D000293:Adolescent; D000328:Adult; D002154:Calpain / Q000378:metabolism; D051244:Caveolin 3 / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D000073939:Dysferlin; D016189:Dystrophin / Q000378:metabolism; D005455:Fluorescent Antibody Technique; D005786:Gene Expression Regulation / Q000502:physiology; D006801:Humans; D007223:Infant; D007797:Laminin / Q000378:metabolism; D008565:Membrane Proteins / Q000378:metabolism*; D008800:Mexico; D008875:Middle Aged; D009124:Muscle Proteins / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000453:epidemiology / Q000378:metabolism* / Q000503:physiopathology; D009687:Nuclear Proteins / Q000378:metabolism; D049031:Sarcoglycans / Q000378:metabolism; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D051244:Caveolin 3; C114839:DYSF protein, human; D000073939:Dysferlin; D016189:Dystrophin; D007797:Laminin; D008565:Membrane Proteins; D009124:Muscle Proteins; D009687:Nuclear Proteins; D049031:Sarcoglycans; C092710:emerin; D003402:Creatine Kinase; C105884:CAPN3 protein, human; D002154:Calpain