英语词汇“spinocerebellar ataxia with axonal neuropathy”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	spinocerebellar ataxia with axonal neuropathy
释义	spinocerebellar ataxia with axonal neuropathy spinocerebellar ataxia with axonal neuropathy ataxic disorder with polyneuropathy that is related to mutations in a DNA repair gene, tyrosyl-DNA phosphodiesterase. spinocerebellar ataxia with axonal neuropathy An autosomal recessive cerebellar ataxia (OMIM:607250) characterised by peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait (as seen in Charcot-Marie-Tooth neuropathy), with normal IQs. Molecular pathology Defects of TDP1, which encodes a DNA repair enzyme, cause spinocerebellar ataxia with axonal neuropathy.
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