Article
Hybrid survival motor neuron genes in Japanese patients with spinal muscular atrophy.
Acta neurologica Scandinavica - 1 Jun 1999
Nishio H, Horikawa H, Yakura H, Sugie K, Nakamuro T, Koterazawa K, Ishikawa Y, Lee M J, Wada H, Takeshima Y, Matsuo M, Sumino K
Abstract excerpt
Spinal muscular atrophy (SMA) is a frequently occurring autosomal recessive disease, characterized by the degeneration of spinal cord anterior horn cells, leading to muscular atrophy. Most SMA patients carry homozygous deletions of the telomeric survival motor neuron gene (SMN) exons 7 and 8. In the study presented here, we examined 20 Japanese SMA patients and found that 4 of these patients were lacking in...
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