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Abnormal mitochondria in muscle tissue
- Parkinson's Disease (National Institute of Neurological Disorders and Stroke)Parkinson's Disease/Start Here ... Parkinson's Disease ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Parkinson's ...
- ... I deficiency typically have neurological problems, such as abnormal brain ... low muscle tone (hypotonia), muscle pain (myalgia), and extreme fatigue ...
- ... hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).Most people with ...
- ... movements of the eyes (nystagmus); mild hearing loss; abnormal curvature of ... muscle movement (motor neuropathy); and muscle wasting (amyotrophy). The ...
- ... parts of the body, most often the brain, muscles, and kidneys. The COQ6 gene mutations associated with this disorder result in a COQ6 enzyme with an abnormal structure that likely impairs its function, leading to ...
- ... affected individuals, and in some cases result in abnormal brain function ... of the heart (cardiac) muscle that can lead to heart failure. People with ...
- ... gene provides instructions for making an enzyme in mitochondria that normally produces a different compound. When the enzyme is altered by mutations, it takes on a new, abnormal function: production of the potentially toxic compound D- ...
- ... weak muscle tone (hypotonia), involuntary muscle tensing (dystonia), muscle spasticity, and seizures. Some have extremely high levels of lactate (lactic acidosis), which can cause serious breathing problems and an abnormal heartbeat. Liver failure occurs in some severely affected ...
- Kearns-Sayre Syndrome (National Center for Advancing Translational Sciences)Eye Diseases/Specifics ... Eye Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... National Center for Advancing Translational Sciences ... From the ...
- ... Kearns-Sayre syndrome. This condition causes weakness of muscles around the eyes and other problems. Pearson syndrome is a rare condition; its prevalence is unknown. Pearson syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen ...