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Article

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Nature - 19 Apr 1990

Melki J, Abdelhak S, Sheth P, Bachelot M F, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere J P, Fardeau M

Abstract excerpt

Proximal spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis. The childhood form is classically subdivided into three groups: acute Werdnig-Hoffmann (type I), intermediate Werdnig-Hoffmann disease (type II) and Kugelberg-Welander disease (type III). These different clinical forms have previously been attributed to either genetic heterogeneity or...

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Identifiers

PMID: 1970420
DOI: 10.1038/344767a0

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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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Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.PMID 1970420Read ↗

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Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter.Semantic proximity Read ↗

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