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Article

Prenatal onset spinal muscular atrophy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 1999

MacLeod M J, Taylor J E, Lunt P W, Mathew C G, Robb S A

Abstract excerpt

Five patients with severe spinal muscular atrophy (SMA) type I, all of whom presented with reduced fetal movements in utero, severe weakness at birth, and short survival time were assessed to attempt to determine whether their phenotype could be explained by their genotype. The diagnosis was confirmed by clinical, electrophysiological and histopathological features. Polymerase chain reaction assays were used to...

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Identifiers

PMID: 10700541
DOI: 10.1053/ejpn.1999.0184

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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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