Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex

Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is caused by loss of function variants in either TSC1 or TSC2 and is characterized by broad phenotypic heterogeneity. Currently, there is limited knowledge regarding the role of the mitochondrial genome (mtDNA) in TSC pathogenesis. In this study, we aimed to determin...

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Bibliographic Details
Main Authors: Krinio Giannikou, Katie R. Martin, Ahmad G. Abdel-Azim, Kaila J. Pamir, Thomas R. Hougard, Shefali Bagwe, Yan Tang, Jeffrey P. MacKeigan, David J. Kwiatkowski, Elizabeth P. Henske, Hilaire C. Lam
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
mTORC1
buccal swab
angiomyolipoma
lymphangioleiomyomatosis
renal cell carcinoma
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.917993/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.917993/full

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