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  • Title: [Indirect molecular-genetic family study and prenatal diagnosis of infantile spinal muscular atrophy].
    Author: Heber U, Müller CR.
    Journal: Klin Padiatr; 1994; 206(1):30-5. PubMed ID: 8152204.
    Abstract:
    Spinal muscular atrophy is one of the most common severe inherited diseases in childhood and especially the acute form of type I (Werdnig-Hoffmann) results in early death. Recently, all three types of childhood-onset SMA have been mapped to chromosome 5. Since then heterozygote detection in siblings and prenatal diagnosis of SMA type I is possible by indirect genetic analysis. As the gene and the mutation responsible for the disease have not yet been cloned, DNA analysis results in a risk figure which depends on the informativity and recombination frequency of the flanking markers studied.
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