Document Detail

Spinal muscular atrophy among the Roma (Gypsies) in Bulgaria and Hungary.
MedLine Citation:
PMID:  12062256     Owner:  NLM     Status:  MEDLINE    
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 appears to have different prevalence and both mild and severe spinal muscular atrophy phenotypes have been diagnosed. We have observed three distinct genetic defects which, in different combinations, lead to different forms of the disease. The similar chromosomal background on which the different mutations occur suggests a common origin and founder effect, with rearrangements of a single ancestral chromosome resulting in a diversity of molecular defects.
Albena Jordanova; Veronika Kargaci; Ivo Kremensky; Ivan Litvinenko; Maria Uzunova; Ivajlo Turnev; Borjana Ishpekova; Agnes Herzegfalvi; Irina Simeonova; Luba Kalaydjieva
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  12     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2002 May 
Date Detail:
Created Date:  2002-06-13     Completed Date:  2002-07-30     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  378-85     Citation Subset:  IM    
Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria.
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MeSH Terms
Cyclic AMP Response Element-Binding Protein
Gypsies / genetics*
Muscular Atrophy, Spinal / genetics*
Nerve Tissue Proteins / genetics
RNA-Binding Proteins
SMN Complex Proteins
Survival of Motor Neuron 1 Protein
Reg. No./Substance:
0/Cyclic AMP Response Element-Binding Protein; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 0/SMN Complex Proteins; 0/SMN1 protein, human; 0/Survival of Motor Neuron 1 Protein

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