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Article

The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review.

Journal of the neurological sciences - 15 Nov 2014

Porro Francesca, Rinchetti Paola, Magri Francesca, Riboldi Giulietta, Nizzardo Monica, Simone Chiara, Zanetta Chiara, Faravelli Irene, Corti Stefania

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal-muscular atrophy 1 (DSMA10), is an autosomal recessive type of spinal muscular atrophy that is related to mutations in the IGHMBP2 gene, which encodes for the immunoglobulin μ-binding protein. SMARD1 patients usually present low birth weight, diaphragmatic palsy and distal muscular atrophy. Clinical features are still...

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Source

Identifiers

PMID: 25248952
DOI: 10.1016/j.jns.2014.09.010

Genes

IGHMBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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