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Article

The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Pediatrics - 1 Jan 2012

Eckart Maria, Guenther Ulf-Peter, Idkowiak Jan, Varon Raymonda, Grolle Benjamin, Boffi Patrizia, Van Maldergem Lionel, Hübner Christoph, Schuelke Markus, von Au Katja

Abstract excerpt

BACKGROUND: Only scarce information is available on the long-term outcome and the natural course of children with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) due to mutations in the IGHMBP2 gene. OBJECTIVE: To describe the natural disease course, to systematically quantify the residual capacities of children with SMARD1 who survive on permanent mechanical respiration, and to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22157136
DOI: 10.1542/peds.2011-0544

Genes

IGHMBP2

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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