Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure

Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of the SETX gene have been implicated in ATX-SETX. We report the case of a 21-year-old woma...

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Vydáno v:BMJ Case Rep
Hlavní autoři: Kinkar, Jiwan Shriram, Jameel, Patel Zeeshan, Kumawat, Banshi Lal, Kalbhor, Priyanka
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2021
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8246282/
https://ncbi.nlm.nih.gov/pubmed/34193451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2021-241767
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