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Results 1 - 10 of 36 for Mitochondrial cytopathy
Did you mean Mitochondrial myopathy?
  1. Kearns-Sayre syndrome 
    ... changes in mtDNA to their children. Kearns-Sayre mitochondrial cytopathy KSS Genetic Testing Registry: Kearns-Sayre syndrome Kearns- ... and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet. 1994 Jan;3(1):13- ...
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  2. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 
    ... no family history of MELAS. MELAS MELAS syndrome Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Mitochondrial myopathy, lactic acidosis, stroke-like episode Myopathy, mitochondrial-encephalopathy- ...
    https://medlineplus.gov/...-lactic-acidosis-and-stroke-like-episodes - Genetics
  3. MT-TE gene 
    ... TE gene are also involved in infantile transient mitochondrial myopathy (also known as benign COX deficiency myopathy). This ... or 3.The mutations involved in infantile transient mitochondrial myopathy change single nucleotides in mitochondrial DNA. Specifically, the ...
    https://medlineplus.gov/genetics/gene/mt-te - Genetics
  4. Kearns-Sayre Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Genetic and Rare Diseases Information Center ... From the National ...
    https://rarediseases.info.nih.gov/.../6817/kearns-sayre-syndrome - External Health Links
  5. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Muscle Disorders/Specifics ... Muscle Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve ...
    https://www.ninds.nih.gov/.../disorders/mitochondrial-disorders - External Health Links
  6. ACAD9 deficiency 
    ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected ...
    https://medlineplus.gov/genetics/condition/acad9-deficiency - Genetics
  7. Barth syndrome 
    Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  8. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  9. Find a Neuromuscular Disease (Muscular Dystrophy Association)  
    Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
    https://www.mda.org/disease/list - External Health Links
  10. MT-TS1 gene 
    ... Pongratz D, Gerbitz KD. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
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