Article

SOD1-related cerebellar ataxia and motor neuron disease: A Cp modifier?

2022-11-22

Abstract excerpt

We describe a novel superoxide dismutase ( SOD1 ) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant in the ceruloplasmin ( Cp ) gene which may have contributed to the phenotype. Our conclusions are supported by the genetic and protein structure analyses of the case.

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Identifiers and source

Literature Corpus work: 72cc4928-5fd8-5b47-80d2-007d4f9abcc3
DOI: 10.21203/rs.3.rs-2278154/v1

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