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© 1995 Oxford University Press

OTHER

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

Kyproula Christodoulou1, Theodoros Kyriakides1, Anna H. Hristova1,2, Domna-Maria Georgiou1, Ljuba Kalaydjieva3, Borjana Yshpekova2, Tatjana Ivanova4, James L.Weber5 and Lefkos T.Middleton1,*

1The Cyprus Institute of Neurology and Genetics Nicosia, Cyprus 2University Hospital Queen Joanna, Neurological Department Sofia 3Laboratory of Molecular Pathology Sofia 4Burgass District Hospital Burgass, Bulgaria 5Marshfield Medical Research Foundation Wisconsin, USA

*To whom correspondence should be addressed

Revised April 20, 1995; Accepted June 6, 1995

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 {theta} = 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.


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