Article
Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary.
Neuromuscular disorders : NMD - 1 May 2002
Jordanova Albena, Kargaci Veronika, Kremensky Ivo, Litvinenko Ivan, Uzunova Maria, Turnev Ivajlo, Ishpekova Borjana, Herzegfalvi Agnes, Simeonova Irina, Kalaydjieva Luba
Abstract excerpt
Spinal muscular atrophy is one of the most common autosomal recessive disorders, classified into three major clinical forms. It is caused mainly by deletions or gene conversions of the telomeric survival motor neuron gene (SMN1) on human chromosome 5. We have conducted molecular studies of the disorder in genetically isolated Romani (Gypsy) communities in Bulgaria and Hungary, where spinal muscular atrophy...
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