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Article

Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling.

Neuromuscular disorders : NMD - 1 May 2013

da Silva Luciana Rodrigues Jacy, Colovati Mileny Esbravatti Stephano, Coprerski Bruno, de Andrade Carlos Eugênio Fernandez, Zanoteli Edmar, Raskin Salmo, Oliveira Mariana Moysés, Melaragno Maria Isabel, Perez Ana Beatriz Alvarez

Abstract excerpt

We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation of the tongue, and severe respiratory muscle involvement. She remained in an intensive care unit with an assisted...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to SMN Complex Proteins

Share to Survival of Motor Neuron 1 Protein

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Source

Identifiers

PMID: 23453857
DOI: 10.1016/j.nmd.2013.01.009

Genes

SMN1
SMN2

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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