title: Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population.
abstract: The authors reviewed all cases of type I spinal muscular atrophy (SMA) in Cuba over a 6-year period. The incidence of SMA type I was 3.53 per 100,000 livebirths. When the population was classified according to self-reported ethnicity, the incidence was eight per 100,000 for whites; 0.89 per 100,000 for blacks, and 0.96 per 100,000 for those of mixed ethnicity. Type 1 SMA may occur less frequently in individuals of African ancestry.
authors.affiliation: Cuban Institute of Neurology and Neurosurgery, Havana, Cuba. tzv@infomed.sld.cu
authors.forename: T
authors.initials: T
authors.lastname: Zaldívar
authors.forename: Y
authors.initials: Y
authors.lastname: Montejo
authors.forename: A M
authors.initials: AM
authors.lastname: Acevedo
authors.forename: R
authors.initials: R
authors.lastname: Guerra
authors.forename: J
authors.initials: J
authors.lastname: Vargas
authors.forename: N
authors.initials: N
authors.lastname: Garofalo
authors.forename: R
authors.initials: R
authors.lastname: Alvarez
authors.forename: M A
authors.initials: MA
authors.lastname: Alvarez
authors.forename: O
authors.initials: O
authors.lastname: Hardiman
mesh_terms: D044383:Black People / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D015331:Cohort Studies; D003462:Cuba / Q000453:epidemiology; D017362:Cyclic AMP Response Element-Binding Protein / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D015995:Prevalence; D016601:RNA-Binding Proteins / Q000235:genetics; D055532:SMN Complex Proteins; D017678:Sex Distribution; D014897:Spinal Muscular Atrophies of Childhood / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins