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Article

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

Journal of medical genetics - 1 Apr 1996

Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J

Abstract excerpt

Spinal muscular atrophy (SMA) is characterised by degeneration of anterior horn cells of the spinal cord and represents the second most common, lethal, autosomal recessive disorder after cystic fibrosis. Based on the criteria of the Internatinal SMA Consortium, childhood SMAs are classified into type I (Werdnig-Hoffmann disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Recently,...

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Source

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Identifiers

PMID: 8730281
DOI: 10.1136/jmg.33.4.281
PMCID: PMC1050575

Genes

NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.PMID 8730281Read ↗

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