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[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].

Medycyna wieku rozwojowego - 1 Jan 2000

Jedrzejowska Maria, Zimowski Janusz, Wiszniewski Wojciech, Sielska Danuta, Bal Jerzy, Mazurczak Tadeusz, Hausmanowa-Petrusewicz Irena, Zaremba Jacek

Abstract excerpt

INTRODUCTION: Proximal spinal muscular atrophy of childhood and adolescence (SMA) is a genetic autosomal recessive disease. Caused in 96.5% by deletion in the SMN1 gene. Owing to the homogeneity of the molecular defect. Secondary prophylaxis can readily be offered to families at risk of SMA. PATIENTS: Prenatal diagnosis of SMA was carried out in a group of 50 families. Which were divided into two subgroups: with...

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Source

Identifiers

PMID: 15858238

Genes

SMN1

Provenance

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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