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Hum Mol Genet. 1995 Sep;4(9):1629-32.

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

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  • 1Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.


An autosomal 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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