Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

Pathogenic variants in the LONP1 gene have been associated with CODAS syndrome (Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome). A recent report identified the first newborn case with LONP1-related mitochondrial cytopathy due to a compound heterozygous pathogenic variant in LON...

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Bibliographic Details
Published in:Front Neurol
Main Authors: Hannah-Shmouni, Fady, MacNeil, Lauren, Brady, Lauren, Nilsson, Mats I., Tarnopolsky, Mark
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2019
Subjects:
Neurology
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6787162/
https://ncbi.nlm.nih.gov/pubmed/31636596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00981
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