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Article

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

Clinical neuropathology - 1 Jan 2000

San Millan Beatriz, Fernandez Jose M, Navarro Carmen, Reparaz Alfredo, Teijeira Susana

Abstract excerpt

BACKGROUND: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically and genetically distinct and uncommon variant of SMA that results from irreversible degeneration of α-motor neurons in the anterior horns of the spinal cord and in ganglion cells on the spinal root ganglia. AIMS: To describe the clinical, electrophysiological, neuropathological, and genetic findings, at different stages...

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Source

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Identifiers

PMID: 26709713
DOI: 10.5414/NP300902
PMCID: PMC4806405

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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