Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 46 publications
Sudden bilateral vision loss in a child with LYRM7-related leukoencephalopathy.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: March 30, 2025
A Novel Presentation and Variable Phenotypic Spectrum of Homozygous Start-Loss Variant in LYRM7-Associated Mitochondrial Complex III Deficiency.
Journal: American journal of medical genetics. Part A
Published: October 29, 2024
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Journal: Rare (Amsterdam, Netherlands)
Published: October 18, 2024
Spermidine toxicity in Saccharomyces cerevisiae due to mitochondrial complex III deficiency.
Journal: Biogerontology
Published: September 25, 2024
Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.
Journal: Neurology India
Published: February 05, 2024
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Journal: Journal of inherited metabolic disease
Published: January 17, 2024
Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation.
Journal: Acta neurologica Belgica
Published: November 10, 2023
Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement Disorders.
Journal: Pediatric neurology
Published: June 27, 2023
BCS1Neonatal growth retardation and lactic acidosis initiated by novel mutation sites in L gene
Journal: Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]
Published: June 25, 2023
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
Journal: CNS neuroscience & therapeutics
Published: April 28, 2023
LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.
Journal: American journal of medical genetics. Part A
Published: November 18, 2022
Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria.
Journal: Nature communications
Published: October 18, 2022
Last Updated: 10/31/2025