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Article

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.

Clinical genetics - 1 May 2020

López-Gallardo Ester, Cammarata-Scalisi Francisco, Emperador Sonia, Hernández-Ainsa Carmen, Habbane Mouna, Vela-Sebastián Ana, Bayona-Bafaluy María Pilar, Montoya Julio, Ruiz-Pesini Eduardo

Abstract excerpt

The frequency of dermatological manifestations in diseases due to mitochondrial DNA mutations is not well known, although multiple symmetric lipomatosis has been repeatedly associated to mitochondrial DNA mutations. Here, we present a patient suffering from multiple symmetric lipomatosis and other skin signs. We found a new mitochondrial DNA mutation, m.8357T>C, in the tRNALys -coding gene and, using a cybrid...

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PMID: 31912494
DOI: 10.1111/cge.13701

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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