Spinal Muscular Atrophy is one of the most common autosomal-recessive disorders among Caucasians. It is caused by mutations in the telomeric survival motor neuron (SMN1) gene. We performed a genotype-phenotype correlation study in affected Gypsy subjects from Bulgaria and Hungary, where mild and severe spinal muscular atrophy forms were observed. We found three different gene defects, which in different combinations cause disease of varying severity. Our data support the concept that, although not protective against disease development, the SMN2 gene acts as a modifier in a dose dependant manner. However, the differences in severity observed among patients sharing identical gene defects suggest that additional factors should contribute to the clinical phenotype.
|Number of pages||5|
|Publication status||Published - Dec 1 2001|
- Spinal muscular atrophy
- Survival motor neuron
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine