Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

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
Main Authors: Fady Hannah-Shmouni, Lauren MacNeil, Lauren Brady, Mats I. Nilsson, Mark Tarnopolsky
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-10-01
Series:Frontiers in Neurology
Subjects:
LONP1
mitochondrial cytopathy
granular bodies
whole exome sequencing
electron microscopy
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2019.00981/full

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https://www.frontiersin.org/article/10.3389/fneur.2019.00981/full

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