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Article

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.

Brain : a journal of neurology - 1 Dec 2003

Pitt Matthew, Houlden Henry, Jacobs Jean, Mok Quen, Harding Brian, Reilly Mary, Surtees Robert

Abstract excerpt

A group of 13 patients with early onset diaphragmatic palsy in association with a progressive neuropathy is presented. All eight of those tested were found to have mutations in the same gene encoding the immunoglobulin mu-binding protein 2 (IGHMBP2) in patients with spinal muscular atrophy (SMA) with respiratory distress type 1. Six out of these eight patients had either homozygous or compound heterozygous...

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Source

Identifiers

PMID: 14506069
DOI: 10.1093/brain/awg278

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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