학술논문
A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report.
Document Type
Article
Author
Source
Subject
*CEREBELLAR ataxia
*SPINOCEREBELLAR ataxia
*FAMILIAL spastic paraplegia
*MEDICAL genetics
*DIAGNOSIS
*DNA analysis
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Language
ISSN
1590-1874
Abstract
Both variants were confirmed by targeted sequencing, leading to a double diagnosis associating Silver spastic paraplegia syndrome (MIM #270,685), also present in her father, with NARP syndrome (MIM #551,500). We report here the remarkable case of a patient harboring two rare pathogenic variants in two different genes, one nuclear and one in the mitochondrial DNA, each inherited from one of the two parents, leading to two different diagnoses for the proband and the rest of her family. [Extracted from the article]