单词 | spinocerebellar ataxia with epilepsy |
释义 | spinocerebellar ataxia with epilepsyspinocerebellar ataxia with epilepsyAn autosomal recessive condition that was once thought to be a distinct clinical entity related to myoclonic epilepsy myopathy sensory ataxia, which is now recognised as part of the polymerase-gamma (POLG)-related disorder spectrum. |
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