TY - JOUR
T1 - Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p
AU - Christodoulou, Kyproula
AU - Kyriakides, Theodoros
AU - Hristova, Anna H.
AU - Georgiou, Domna Maria
AU - Kalaydjieva, Ljuba
AU - Yshpekova, Borjana
AU - Ivanova, Tatjana
AU - L.weber, James
AU - T.middleton, Lefkos
PY - 1995/9
Y1 - 1995/9
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/0029145426
U2 - 10.1093/hmg/4.9.1629
DO - 10.1093/hmg/4.9.1629
M3 - Article
C2 - 8541851
AN - SCOPUS:0029145426
SN - 0964-6906
VL - 4
SP - 1629
EP - 1632
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 9
ER -
