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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 ...
- ... 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 ...
- FBXL4-related encephalomyopathic ... mtDNA depletion syndrome have weak muscle tone (hypotonia) and a failure to ...
- RRM2B-related mitochondrial DNA ... also have a kidney dysfunction known as renal tubulopathy.Infants with RRM2B-MDS ...
- SUCLG1-related mitochondrial DNA ... mtDNA depletion syndrome often have weak muscle tone (hypotonia). They typically have ...
- ... pseudo-obstruction Thymidine phosphorylase deficiency Genetic Testing Registry: Mitochondrial DNA depletion syndrome 1 Genetic Testing Registry: Mitochondrial DNA depletion ...
- ... Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A PubMed Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with ...
