Mitochondrial DNA Haplogroups and Age at Onset of Spinocerebellar Ataxia Type 2: A Study in Indian Patients

Background and Objectives: Spinocerebellar ataxia type 2 (SCA2) is caused by cytosine-adenine-guanine (CAG) nucleotide repeat expansion in the ATXN2 gene. Mitochondrial DNA (mtDNA) haplogroups may have an influence on the disease presentation of SCA2. Methods: A total of 217 SCA2 patients were subje...

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Hlavní autoři:	Akhilesh Kumar Sonakar, Chhavi Sharma, Shahrumi Reza, Shivam Pandey, M V Padma Srivastava, Achal K Srivastava, Mohammed Faruq
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wolters Kluwer Medknow Publications 2026-01-01
Edice:	Annals of Indian Academy of Neurology
Témata:	mtdna sca2 genetic modifier polyglutamine disorder mitochondrial haplogroups
On-line přístup:	https://journals.lww.com/10.4103/aian.aian_426_25
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