A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3.
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DOI: 10.5414/np301457
Abstract: OBJECTIVE Spinocerebellar ataxia with axonal neuropathy type 3 (SCAN3) is a very rare autosomal recessive hereditary disease. Mutations in the COA7 gene, which encodes cytochrome c oxidase assembly factor 7, have been recently reported as… read more here.
Keywords: ataxia axonal; axonal neuropathy; neuropathy type; spinocerebellar ataxia ... See more keywords