Article

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degeneration

2022-11-03

Abstract excerpt

<title>Abstract</title> <p>Hereditary spinocerebellar degenerative disorders (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include spastic paraplegia, spastic ataxia, cerebellar ataxia, and spinocerebellar ataxia. They are often complicated with axonal neuropathy and/or intellectual impairment. More than 200 genes and loci inherited through all...

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Literature Corpus work: faa62bec-df29-56b7-98d9-1484f0c82fc2
DOI: 10.21203/rs.3.rs-2219015/v1

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