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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
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 apra...
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| Udgivet i: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2015
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4593195/ https://ncbi.nlm.nih.gov/pubmed/26285866 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0213-y |
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