Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation
Gerardo G. Piroli(University of South Carolina), Richard Steet(Greenwood Genetic Center)
Cited by 0
Related Papers
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variant
|Molecular Case Studies|2021|11
Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders
|iScience|2024|11
FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
|Nephrology Dialysis Transplantation|2022|2
Heterozygous Variants in NEK8 Kinase Domain Cause an Autosomal-Dominant Ciliopathy
|Journal of the American Society of Nephrology|2021|0
Simpson‐Golabi‐Behmel Syndrome Associated With a Missense Variant at the Signal Peptide Cleavage Site of <scp>GPC3</scp>
|American Journal of Medical Genetics Part A|2025|0