Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

K Nikali, A Suomalainen, J Saharinen, M Kuokkanen, JN Spelbrink, T Lonnqvist, L Peltonen

Research output: Contribution to journalArticleScientificpeer-review

155 Citations (Scopus)
Original languageEnglish
Pages (from-to)2981-2990
JournalHum Mol Genet.
Issue number20
Publication statusPublished - 2005
Publication typeA1 Journal article-refereed

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