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Article

Phenotype and genotype correlation in childhood spinal muscular atrophy.

Neurologia i neurochirurgia polska - 1 Jan 2001

Hausmanowa-Petrusewicz I

Abstract excerpt

In the period 1998-2000 almost all new cases of childhood spinal muscular atrophy (SMA) in addition to those from our database were studied for possible deletion of SMN gene (exons 7 a 8) and NAIP (exons 5 a 6). We correlated the size of deletion with the type, course and the onset of disease. The most informative for diagnosis was deletion of SMN. NAIP was deleted only in 18% of all cases, usually in SMA1 (in...

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Source

Identifiers

PMID: 12001651

Genes

NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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