[Different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis showing Cys146Arg point mutation of superoxide dismutase 1 gene].

Abstract excerpt

We reported different clinical phenotypes of siblings with familial amyotrophic lateral sclerosis (FALS) showing Cys146Arg point mutation of superoxide dismutase 1 (SOD1) gene. They showed differences in disease onset of age, progression and severity. The propositus, a 50-year old woman, had muscle wasting and weakness in right lower leg with dysesthesia at the onset, which showed slow progression without other...

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