目的研究遗传性脊髓小脑性共济失调7型（SCA7）的基因突变和临床特征。

Objective To study the gene mutation and clinical characteristic of hereditary spinocerebellar ataxia type 7 (SCA7).

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目的研究线粒体dna点突变与遗传性共济失调(HA)的关系。

Objective to study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia (HA).

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目的：探索线粒体dna点突变与遗传性共济失调的关系。

Objective: to study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia.

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AT M基因突变可导致共济失调毛细血管扩张症(AT)，一种常染色体隐性遗传病，该病特点是不协调的肌肉运动和神经退化。

Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.

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AT M基因突变可导致共济失调毛细血管扩张症(AT)，一种常染色体隐性遗传病，该病特点是不协调的肌肉运动和神经退化。

Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.

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