Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 52 for light "syndrome," mitochondrial
  1. Mitochondrial DNA 
    ... common deletion is 4,997 nucleotides. Kearns-Sayre syndrome primarily affects the eyes, causing weakness of the eye muscles (ophthalmoplegia) and breakdown of the light-sensing tissue at the back of the eye (retinopathy). The mitochondrial DNA deletions result in the loss of genes ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  2. Maternally inherited diabetes and deafness 
    ... type II, with deafness Maternally transmitted diabetes-deafness syndrome MIDD Mitochondrial inherited diabetes and deafness NIDDM with deafness Noninsulin- ...
    https://medlineplus.gov/...aternally-inherited-diabetes-and-deafness - Genetics
  3. Kearns-Sayre syndrome 
    ... PubMed Goldstein A, Falk MJ. Single Large-Scale Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [updated 2023 Sep 28]. In: ... analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet. ... Epub 2008 Apr 15. Citation on PubMed
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  4. Cyclic vomiting syndrome 
    ... with pain, nausea, vomiting, and extreme sensitivity to light and sound. Cyclic vomiting syndrome is likely the same as or closely related ... as mitochondrial DNA or mtDNA).Several changes in mitochondrial DNA have ... cyclic vomiting syndrome. Some of these changes alter single DNA building ...
    https://medlineplus.gov/genetics/condition/cyclic-vomiting-syndrome - Genetics
  5. Neuropathy, ataxia, and retinitis pigmentosa 
    ... PIGMENTOSA PubMed Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. ... Arenas J, Olive M, Ferrer I. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study. ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  6. Deafness-dystonia-optic neuronopathy syndrome 
    ... abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome. TIMM8A DDON syndrome is inherited in an X- ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  7. Primary coenzyme Q10 deficiency 
    ... Hirano M. Clinical presentations of coenzyme q10 deficiency syndrome. Mol Syndromol. 2014 Jul;5(3-4):141-6. doi: 10.1159/000360490. Citation on PubMed or Free article on PubMed Central Quinzii CM, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16(2): ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  8. GM3 synthase deficiency 
    GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected ...
    https://medlineplus.gov/genetics/condition/gm3-synthase-deficiency - Genetics
  9. HADHA gene 
    ... up and damage the liver, heart, muscles, and light-sensitive tissue at the back of ... mitochondrial trifunctional protein deficiency. These mutations reduce all three ...
    https://medlineplus.gov/genetics/gene/hadha - Genetics
  10. Comfort care for kids and their families: A mother’s story | NIH MedlinePlus Magazine 
    ... a genetic mutation associated with Dravet syndrome. Dravet syndrome is a lifelong, rare form of epilepsy that begins in the first year of life and typically doesn't respond to medication. Jake was also later diagnosed with mitochondrial dysfunction, adding to the severity and complexity of ...
    https://magazine.medlineplus.gov/...d-their-families-a-mothers-story - MedlinePlus Magazine
previous · 1 · 2 · 3 · 4 · 5 · 6 · next