Pathogenic <i>DNM1L</i> Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C)

Pathogenic <i>DNM1L</i> Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C)

Mitochondria are dynamic organelles undergoing continuous fusion and fission with Drp1, encoded by the <i>DNM1L</i> gene, required for mitochondrial fragmentation. <i>DNM1L</i> dominant pathogenic variants lead to progressive neurological disorders with early exitus. Herein w...

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Bibliographic Details
Main Authors: Claudia Piccoli, Rosella Scrima, Annamaria D’Aprile, Massimiliano Chetta, Olga Cela, Consiglia Pacelli, Maria Ripoli, Giovanna D’Andrea, Maurizio Margaglione, Nenad Bukvic, Nazzareno Capitanio
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
DNM1L
Drp1
mitochondrial fission
encephalopathy
genetic mosaicism
Online Access:https://www.mdpi.com/2073-4425/12/9/1295

Internet

https://www.mdpi.com/2073-4425/12/9/1295

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