Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

doi:10.1002/ana.10755

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Article

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Annals of neurology - 1 Dec 2003

Grohmann Katja, Varon Raymonda, Stolz Piroschka, Schuelke Markus, Janetzki Catrin, Bertini Enrico, Bushby Kate, Muntoni Francesco, Ouvrier Robert, Van Maldergem Lionel, Goemans Nathalie M L A, Lochmüller Hanns, Eichholz Stephan, Adams Coleen, Bosch Friedrich, Grattan-Smith Padraic, Navarro Carmen, Neitzel Heidemarie, Polster Tilman, Topaloğlu Haluk, Steglich Christina, Guenther Ulf P, Zerres Klaus, Rudnik-Schöneborn Sabine, Hübner Christoph

Abstract excerpt

Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. SMARD1 results from mutations in the gene encoding the immunoglobulin micro-binding protein 2 (IGHMBP2) on chromosome 11q13. Our aim was to review the clinical features of 29 infants affected with SMARD1 and report on 26 novel...

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Identifiers

PMID: 14681881
DOI: 10.1002/ana.10755

Genes

IGHMBP2

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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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