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Article

Spinal muscular atrophy: present state.

Brain pathology (Zurich, Switzerland) - 1 Apr 2001

Schmalbruch H, Haase G

Abstract excerpt

Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease caused by homozygous deletions or mutations in the SMN1 gene on Chr.5q13. SMA spans from severe Werdnig-Hoffmann disease (SMA 1) to relatively benign Kugelberg-Welander disease (SMA 3). Onset before birth possibly aggravates the clinical course, because immature motoneurons do not show compensatory sprouting and collateral reinnervation, and...

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Source

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Identifiers

PMID: 11303798
DOI: 10.1111/j.1750-3639.2001.tb00395.x
PMCID: PMC8098133

Genes

SMN2
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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