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Article

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.

Genetic testing - 1 Mar 2008

Basel-Vanagaite Lina, Taub Ellen, Drasinover Valerie, Magal Nurit, Brudner Alona, Zlotogora Joel, Shohat Mordechai

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive muscle weakness. It is caused by a mutation in the survival motor neuron gene 1 (SMN1) gene. SMA with respiratory distress 1 (SMARD1), an uncommon variant of infantile SMA also inherited in an autosomal recessive manner, is caused by mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene. We carried out...

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Source

Identifiers

PMID: 18298318
DOI: 10.1089/gte.2007.0030

Genes

IGHMBP2
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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