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Article

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

27 Mar 2001

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) results from mutations of the survival motor neuron (SMN) gene on chromosome 5. The SMN gene exists in two highly homologous copies, telomeric (SMN1) and centromeric (SMN2). SMA is caused by mutations in SMN1 but not SMN2. The clinical phenotype of SMA appears to be related to the expression of SMN2. Patients suffering from the milder forms of SMA carry more copies of the...

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PMID: 11274309
DOI: 10.1212/wnl.56.6.749

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