Neuropathology : official journal of the Japanese Society of NeuropathologyHumansAmyotrophic Lateral SclerosisMaleAdultSuperoxide Dismutase-1
An Autopsy Case of ALS Which Clinically Presented Sporadic Adult-Onset Lower Motor Neuron Disease and Genetically Had p. Leu127Ser (L126S) Variant in SOD1 and SMN2 Deletion.
Kimiko Inoue, Harutoshi Fujimura, Kayo Ueda, Hisahide Nishio, Hiroya Naruse, Yuishin Izumi
Published: 202510.1111/neup.70032
Abstract
Herein, we report an autopsy case of sporadic amyotrophic lateral sclerosis (ALS) with a p. L127S (L126S) SOD1 variant, SMN2 deletion and one hybrid SMN. A 43-year-old Japanese man noticed muscle weakness in his left lower extremity. At the age of 51…
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