- Case Report
- Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves
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Ran Lee, Sochung Chung, Sung-Eun Koh, In Kyu Lee, Jongmin Lee
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Clin Exp Pediatr. 2008;51(12):1350-1354. Published online December 15, 2008
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Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5 (5q11.2-13.3). SMA has been considered as a pure lower motor neuron disorder, and a definitive diagnosis can be established by molecular genetic testing. Here, we describe two patients with severe... |
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