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Last Updated: 10/31/2025
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Found 134 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
Leber's hereditary optic neuropathy - current status of idebenone and gene replacement therapies.
Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Published: February 18, 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
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
MYC-an emerging player in mitochondrial diseases.
Journal: Frontiers in cell and developmental biology
Published: July 12, 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
Total and reduced/oxidized forms of coenzyme Q10 in fibroblasts of patients with mitochondrial disease.
Journal: Molecular genetics and metabolism reports
Published: October 25, 2022
Last Updated: 10/31/2025