Article
Decreased expression of full-length mRNA for cBCD541 does not correlate with spinal muscular atrophy phenotype severity.
Neurology - 1 May 1997
Nishio H, Ishikawa Y, Lee M J, Fujii M, Kanda F, Jinnai K, Takahashi K, Takeshima Y, Wada H, Takada S, Nakamura H, Matsuo M, Sumino K
Abstract excerpt
Spinal muscular atrophy (SMA) is characterized by degeneration of spinal cord anterior horn cells and muscular atrophy and has three phenotypes based on clinical severity and age of onset. One of the responsible genes for SMA is the survival motor neuron (SMN) gene, which is homozygously absent or interrupted in more than 90% of SMA patients. The cBCD541 (BCD) gene is a highly homologous copy of the SMN gene,...
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