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Article

Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.

Journal of clinical laboratory analysis - 1 Dec 2022

Ruan Miaohua, Wang Hongwei, Zhu Mianmian, Sun Rongyue, Shi Jiamin, Wang Qiu, Chen Yuan, Wang Yihong, Wang Dan

Abstract excerpt

BACKGROUND: CWF19L1 is responsible for spinocerebellar ataxia, autosomal recessive 17, which presents with cerebellar ataxia, and atrophy. Here, we report novel compound heterozygous variants of CWF19L1 in a Chinese family with progressive ataxia and mental retardation of unknown etiology by analyzing clinical characteristics and genetic variations. METHODS: Clinical profiles and genomic DNA extracts of family...

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PMID: 36357319
DOI: 10.1002/jcla.24767
PMCID: PMC9757004

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