MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions

OBJECTIVE: To identify the cause of an adult-onset multisystemic disease with multiple deletions of mitochondrial DNA (mtDNA). DESIGN: Case report. SETTING: University hospitals. PATIENT: A 65-year-old man with axonal sensorimotor peripheral neuropathy, ptosis, ophthalmoparesis, diabetes mellitus, e...

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Huvudupphovsmän: Garone, Caterina, Rubio, Juan Carlos, Calvo, Sarah E., Naini, Ali, Tanji, Kurenai, DiMauro, Salvatore, Mootha, Vamsi K., Hirano, Michio
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2012
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3894685/
https://ncbi.nlm.nih.gov/pubmed/22964873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2012.405
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