ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Abstract Background Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-lethal but dominant cardiomyopathy. The genetic diagnos...

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Bibliographic Details
Main Authors: Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
Format: Article
Language:English
Published: BMC 2023-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
ATAD3A
Mitochondria
OXPHOS
Pontocerebellar hypoplasia
Online Access:https://doi.org/10.1186/s13023-023-02689-3

Internet

https://doi.org/10.1186/s13023-023-02689-3

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