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Sung-Eun Koh  (Koh SE) 1 Article
Case Report
Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves
Ran Lee, Sochung Chung, Sung-Eun Koh, In Kyu Lee, Jongmin Lee
Clin Exp Pediatr. 2008;51(12):1350-1354.   Published online December 15, 2008
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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