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Article

Clinical phenotype of familial amyotrophic lateral sclerosis with SOD1 gene mutation mimicking proximal myopathy: A case report and literature review.

Clinical neuropathology - 1 Jan 2000

Sun Jin Mei, Zhang Cheng Jie, Wang Lin, Bi Hong Yan

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a disorder with strong clinical and genetic heterogeneity, and its pathogenic mechanism has not been completely clarified. Proximal myopathy is rare in clinical manifestations of ALS. Here, we describe a 34-year-old woman with a 1-year history of symmetrical, proximal limb weakness, and muscle atrophy, with slow progression and no upper motor neuron (UMN) signs. The clinical...

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PMID: 35652543
DOI: 10.5414/NP301459

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