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Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population.

Zaldívar, T; Montejo, Y; Acevedo, A M; Guerra, R; Vargas, J; Garofalo, N; Alvarez, R; Alvarez, M A; Hardiman, O.

Neurology ; 65(4): 636-8, 2005 Aug 23.

Article in English | MEDLINE | ID: mdl-16116135

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.

Subject(s)

Genetic Predisposition to Disease/genetics , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Spinal Muscular Atrophies of Childhood/epidemiology , Black People/genetics , Chromosomes, Human, Pair 5/genetics , Cohort Studies , Cuba/epidemiology , Cyclic AMP Response Element-Binding Protein/genetics , DNA Mutational Analysis , Exons/genetics , Female , Genetic Testing , Genetic Variation/genetics , Heterozygote , Humans , Incidence , Infant , Infant, Newborn , Male , Mutation/genetics , Nerve Tissue Proteins/genetics , Prevalence , RNA-Binding Proteins/genetics , SMN Complex Proteins , Sex Distribution , Spinal Muscular Atrophies of Childhood/ethnology , Spinal Muscular Atrophies of Childhood/genetics , White People/genetics

ABSTRACT

Subject(s)

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