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Article

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.

Neuromuscular disorders : NMD - 1 Jun 2013

Stalpers Xenia L, Verrips Aad, Poll-The Bwee Tien, Cobben Jan-Maarten, Snoeck Irina N, de Coo Irenaeus F M, Brooks Alice, Bulk Saskia, Gooskens Rob, Fock Annemarie, Verschuuren-Bemelmans Corien, Sinke Richard J, de Visser Marianne, Lemmink Henny H

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness, and contractures leading to foot deformities as the most striking clinical symptoms. Mutations of the gene encoding the immunoglobulin heavy cha...

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Identifiers

PMID: 23566544
DOI: 10.1016/j.nmd.2013.03.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23566544-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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