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[Indirect molecular-genetic family study and prenatal diagnosis of infantile spinal muscular atrophy].

Klinische Padiatrie - 1 Jan 2000

Heber U, Müller C R

Abstract excerpt

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...

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Identifiers

PMID: 8152204
DOI: 10.1055/s-2008-1046577

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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