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Depletion of mitochondrial DNA in muscle tissue
- TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal ...
- Mitochondrial Disorders (National Institute of Neurological Disorders and Stroke)Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Muscle Disorders/Specifics ... Muscle Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases
- Leigh Syndrome (National Institute of Neurological Disorders and Stroke)Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... National Institute of Neurological ...
- Mitochondrial DNA Depletion Syndrome (Alpers' Disease) (National Institute of Neurological Disorders and Stroke)Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Genetic Brain Disorders/Specifics
- What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDFNeuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
- ... gene have been found to cause TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS). TK2-MDS is an inherited condition that causes progressive muscle weakness (myopathy), typically beginning in early childhood. About ...
- ... in the RRM2B gene can cause RRM2B-related mitochondrial DNA depletion ... muscle weakness (encephalomyopathy) and a problem with kidney function ...
- ... neurological problems, which can include developmental delay, weak muscle tone (hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically survive only into infancy or early ...
- ... in the amount of mtDNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the brain, liver, and muscle dysfunction associated with deoxyguanosine kinase deficiency. DGUOK This ...
- SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Affected infants typically develop weak muscle tone (hypotonia) in the first few months of life. In these infants, hypotonia can delay the development of ...