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Results 11 - 20 of 68 for Abnormal mitochondria in muscle tissue
  1. Carnitine-acylcarnitine translocase deficiency 
    ... long-chain fatty acids cannot be transported into mitochondria. As a ... and muscles. This abnormal buildup causes the other signs and symptoms of ...
    https://medlineplus.gov/...tine-acylcarnitine-translocase-deficiency - Genetics
  2. 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
  3. Friedreich Ataxia From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Friedreich Ataxia/Start Here ... Friedreich Ataxia ... National Institute of Neurological Disorders and Stroke ... Friedreich ataxia (FA) is a rare, inherited disorder ...
    https://www.ninds.nih.gov/.../disorders/friedreich-ataxia - External Health Links
  4. Barth syndrome 
    ... type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria DNAJC19 defect MGA type 2 MGA type II ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  5. MT-TK gene 
    ... characterized by muscle twitches (myoclonus), recurrent seizures (epilepsy), abnormal muscle cells known as ragged-red fibers, and other problems with the nervous system. Most of the mutations involved in this ... ability of mitochondria to make proteins, use oxygen, and produce energy. ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  6. Myoclonic epilepsy with ragged-red fibers 
    ... a microscope, these cells usually appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other features ... Mutations that cause MERRF impair the ability of mitochondria to make ... brain and muscles. Researchers have not determined how changes in mtDNA ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  7. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 
    ... not develop until adulthood. People with LBSL have abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). ...
    https://medlineplus.gov/...al-cord-involvement-and-lactate-elevation - Genetics
  8. Combined oxidative phosphorylation deficiency 1 
    ... to thrive). In some cases, affected individuals have abnormal muscle tone (increased or decreased), developmental delay, seizures, loss ...
    https://medlineplus.gov/...ed-oxidative-phosphorylation-deficiency-1 - Genetics
  9. SLC25A20 gene 
    ... in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of ...
    https://medlineplus.gov/genetics/gene/slc25a20 - Genetics
  10. 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
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