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Results 11 - 20 of 36 for Abnormal mitochondria in muscle tissue
  1. Carnitine palmitoyltransferase II deficiency 
    ... in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of ...
    https://medlineplus.gov/...nitine-palmitoyltransferase-ii-deficiency - Genetics
  2. Autosomal dominant optic atrophy and cataract 
    ... apoptosis).Mutations in the OPA3 gene lead to abnormal mitochondrial function. The mitochondria become misshapen and disorganized and have reduced energy- ...
    https://medlineplus.gov/...somal-dominant-optic-atrophy-and-cataract - Genetics
  3. Mitochondrial trifunctional protein deficiency 
    ... build up and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of ...
    https://medlineplus.gov/...hondrial-trifunctional-protein-deficiency - Genetics
  4. Ornithine translocase deficiency 
    ... developmental delay, learning disabilities, or stiffness caused by abnormal tensing of the muscles (spasticity). Affected individuals may have chronic liver problems ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  5. Primary coenzyme Q10 deficiency 
    ... muscle tone (hypotonia), involuntary muscle contractions (dystonia), progressive muscle stiffness (spasticity), abnormal eye movements (nystagmus), vision loss caused by degeneration ( ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  6. Deoxyguanosine kinase deficiency 
    ... dysfunction. Neurological signs and symptoms may include weak muscle tone (hypotonia), abnormal involuntary eye movements (nystagmus), developmental delays, and, rarely, ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  7. Pyruvate carboxylase deficiency 
    ... liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form ...
    https://medlineplus.gov/.../pyruvate-carboxylase-deficiency - Genetics
  8. Myopathy with deficiency of iron-sulfur cluster assembly enzyme 
    ... cluster assembly enzyme is particularly damaging to skeletal muscle cells. Within the mitochondria of these cells, a lack of this enzyme ...
    https://medlineplus.gov/...cy-of-iron-sulfur-cluster-assembly-enzyme - Genetics
  9. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 
    ... also build up and damage the liver, heart, muscles, and retina. This abnormal buildup causes the other signs and symptoms of ...
    https://medlineplus.gov/...-hydroxyacyl-coa-dehydrogenase-deficiency - Genetics
  10. Ethylmalonic encephalopathy 
    ... loss of previously acquired skills (developmental regression), weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels ( ...
    https://medlineplus.gov/.../condition/ethylmalonic-encephalopathy - Genetics
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