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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
Nature, Volume 344, No. 6268, Year 1990
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Description
PROXIMAL spinal muscular atrophies represent the second most common fatal, autosomal recessive disorder after cystic fibrosis1. 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 variable expression of different mutations at the same locus2. Research has been hindered because the underlying biochemical defect is unknown, and there are insufficient large pedigrees with the most common and severe form (type I) available for study. Therefore, we have undertaken a genetic linkage analysis of the chronic forms of the disease (types II and III) as an initial step towards the ultimate goal of characterizing the gene(s) responsible for all three types. We report here the assignment of the locus for the chronic forms to the long arm of chromosome 5 (5q 12-ql4), with the anonymous DNA marker D5S39, in 24 multiplex families of distinct ethnic origin. Furthermore, no evidence for genetic heterogeneity was found for types II and III in our study, suggesting that these two forms are allelic disorders. © 1990 Nature Publishing Group.
Authors & Co-Authors
Melki, Judith
France, Paris
Inserm
Abdelhak, Sonia
France, Paris
Inserm
Fardeau, Michael
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Ponsot, Gérard
France, Paris
Hopital Saint-vincent-de-paul
Angelini, C. I.
Unknown Affiliation
Babron, Marie Claude C.
France, Paris
Inserm
Cohen, Daniel M.
Unknown Affiliation
Clerget-Darpoux, Françoise
France, Paris
Inserm
Lathrop, Mark G.
Unknown Affiliation
Frèzal, Jean F.
France, Paris
Inserm
Statistics
Citations: 382
Authors: 10
Affiliations: 9
Identifiers
Doi:
10.1038/344767a0
ISSN:
00280836
Research Areas
Genetics And Genomics
Maternal And Child Health