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Article

Longitudinal assessments in discordant twins with SMA.

Neuromuscular disorders : NMD - 1 Oct 2017

Pane Marika, Lapenta Leonardo, Abiusi Emanuela, de Sanctis Roberto, Luigetti Marco, Palermo Concetta, Ranalli Domiziana, Fiori Stefania, Tiziano Francesco Danilo, Mercuri Eugenio

Abstract excerpt

We report longitudinal clinical and neurophysiological assessments in twins affected by spinal muscular atrophy (SMA) with discordant phenotypes. The boy had the homozygous deletion of SMN1, a typical type 1 SMA course, and died at the age of eight months. His twin sister, asymptomatic at the time of the diagnosis in her brother, had the same genetic defect but she developed clinical and electrophysiological...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28797588
DOI: 10.1016/j.nmd.2017.06.559

Genes

SMN2
SMN1

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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