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Article

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.

Neuromuscular disorders : NMD - 1 Aug 1996

Capon F, Levato C, Merlini L, Angelini C, Mostacciuolo M L, Politano L, Novelli G, Dallapiccola B

Abstract excerpt

Three type III spinal muscular atrophy (SMA) families are described in which the same deletion pattern for SMN gene and flanking loci is apparent in both affected and unaffected siblings. Deletions extending to include the NAIP gene are reported in one sibship. All three individuals in which SMN...

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Source

Identifiers

PMID: 8887955
DOI: 10.1016/0960-8966(96)00350-1

Genes

NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8887955-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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