Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
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- 作者：Rick van Minkelen ; Miriam Guitart ; Conxita Escofet ; Grace Yoon…
- 关键词：APTX ; Ataxia with oculomotor apraxia type 1 ; Deletion ; Homozygous ; MLPA ; SNP array analysis ; Breakpoint mapping ; Genetic testing
- 刊名：BMC Medical Genetics
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：16
- 期：1
- 全文大小：436 KB
- 刊物主题：Human Genetics; Genetics and Population Dynamics;
- 出版者：BioMed Central
- ISSN：1471-2350
文摘
Background Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a severe primary motor peripheral axonal motor neuropathy. Ataxia with oculomotor apraxia type 1 is caused by bi-allelic mutations in APTX (chromosome 9p21.1).