Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
2015
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).
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
20
References
2
Citations
NaN
KQI