Open AccessPresymptomatic dna-diagnosis of proximal spinal muscle atrophy
Author(s) -
G. K. Yudina,
О. В. Колоколов
Publication year - 1997
Publication title -
nevrologičeskij vestnik
Language(s) - English
Resource type - Journals
eISSN - 2304-3067
pISSN - 1027-4898
DOI - 10.17816/nb79925
Subject(s) - spinal muscular atrophy , atrophy , dna , muscle atrophy , pathology , gene , medicine , biology , genetics
Case of preclinical DNA-diagnosis in a family with the use of polymorphous markers in the region 5gll.2-gl3.3 and search of the SMN gene deletion is presented. It has been suggested to perform DNA-study in all the members of families in which patients with spinal muscle atrophy were revealed.