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...
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: | |
Online Access: | https://www.mdpi.com/2073-4425/12/9/1295 |
Similar Items
-
DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review
by: Xingmiao Liu, et al.
Published: (2021-07-01) -
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells
by: Liza Douiev, et al.
Published: (2020-01-01) -
A rare case of centronuclear myopathy with DNM2 mutation: genotype–phenotype correlation
by: Amir Ghorbani Aghbolaghi, et al.
Published: (2017-06-01) -
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy
by: Osorio Abath Neto, et al.
Published: (2015-06-01) -
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy
by: Maja Tarailo‐Graovac, et al.
Published: (2019-10-01)