Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

Kyproula Christodoulou, Theodoros Kyriakides, Anna H. Hristova, Domna Maria Georgiou, Ljuba Kalaydjieva, Borjana Yshpekova, Tatjana Ivanova, James L.weber, Lefkos T.middleton

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Abstract

An autosomai dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large Bulgarian family. Linkage of the above family to the spinal muscular atrophy type I, II and III locus on chromosome 5 has been excluded. In an attempt to map this disease gene we have analysed individuals of this family, with more than 140 microsatellite polymorphic markers of the human genome. A maximum lod score of 5. 99 at θ = 0. 007 has been obtained with locus D7S795. We have thus mapped the gene for this hereditary form of distal spinal muscular atrophy to chromosome 7p.

Original languageEnglish
Pages (from-to)1629-1632
Number of pages4
JournalHuman Molecular Genetics
Volume4
Issue number9
DOIs
Publication statusPublished - Sep 1995

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    Christodoulou, K., Kyriakides, T., Hristova, A. H., Georgiou, D. M., Kalaydjieva, L., Yshpekova, B., Ivanova, T., L.weber, J., & T.middleton, L. (1995). Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Human Molecular Genetics, 4(9), 1629-1632. https://doi.org/10.1093/hmg/4.9.1629