Spinocerebellar ataxia type 11: a case report / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 156-159, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-933773
ABSTRACT
Spinocerebellar ataxia (SCA) is a group of highly heterogeneous autosomal dominant genetic disease, including many subtypes. SCA11 is a rare subtype of SCA, and is caused by mutant TTBK2 gene. A case of SCA11 was reported in this article. Whole exome sequencing showed that there was a c.1284dupA frameshift mutation in TTBK2 gene. Literature review found that only 6 pedigrees of SCA11 have been reported, but the mutation site of this case is a novel identified mutation that has not been reported in the Human Gene Mutation Database.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Neurology
Year:
2022
Type:
Article
Similar
MEDLINE
...
LILACS
LIS