Pathogenic DNM1L 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 DNM1L gene, required for mitochondrial fragmentation. DNM1L dominant pathogenic variants lead to progressive neurological disorders with early exitus. Herein we report on the case of a boy affected...

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Detalles Bibliográficos
Autores principales: Piccoli, Claudia, Scrima, Rosella, D’Aprile, Annamaria, Chetta, Massimiliano, Cela, Olga, Pacelli, Consiglia, Ripoli, Maria, D’Andrea, Giovanna, Margaglione, Maurizio, Bukvic, Nenad, Capitanio, Nazzareno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467311/
https://www.ncbi.nlm.nih.gov/pubmed/34573276
http://dx.doi.org/10.3390/genes12091295

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8467311/
https://www.ncbi.nlm.nih.gov/pubmed/34573276
http://dx.doi.org/10.3390/genes12091295

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