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Article

Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy

1 Oct 2001

Abstract excerpt

Spinal muscular atrophy (SMA) is a severe neurodegenerative autosomal recessive disorder, second only in frequency to cystic fibrosis. In its most severe form, SMA type I (Werdnig-Hoffman), death invariably ensues before age 2 years from respiratory failure or infection. Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy of the SMN gene...

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Share to Congenital Anomalies and Fetal Surgery
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Identifiers

PMID: 11574669
DOI: 10.1093/molehr/7.10.995

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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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