TK2|related mitochondrial DNA depletion syndrome

TK2 -related mitochondrial DNA depletion syndrome, myopathic form ( TK2 -MDS) is an inherited condition that causes progressive muscle ...

The diagnosis of TK2-related mtDNA maintenance defect is established in a proband older than age two years with reduced mtDNA content or ...

Thymidine Kinase 2 Deficiency - Symptoms, Causes, Treatment

TK2D is one of the primary mitochondrial myopathies (PMM). PMM are a group of mitochondrial disorders that present predominantly with muscle ...

MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC ...

Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with ...

TK2d - UMDF

Thymidine kinase 2 deficiency (TK2d) is a rare genetic mitochondrial disease that may also be called TK2-Related Mitochondrial DNA Maintenance Defect or ...

Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects ...

TK2 deficiency (TK2d) causes mtDNA depletion, multiple deletions, or both, which manifest predominantly as mitochondrial myopathy. A wide ...

Learn More About TK2d | A Resource for Patients and Caregivers

TK2d is a type of mitochondrial disease called mitochondrial DNA depletion and deletion syndrome (MDDS). There are many types of mitochondrial diseases, so ...

Late-onset thymidine kinase 2 deficiency: a review of 18 cases

Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion/multiple deletions syndrome, with a ...

The impact of TK2 deficiency syndrome and its treatment by ...

TK2d is an ultrarare autosomal recessive mitochondrial DNA depletion syndrome. Nucleoside therapy improves or stabilizes disease across key outcomes ...

Mitochondrial DNA depletion syndrome (MDDS)

For example, there are thought to be <100 cases of mitochondrial DNA depletion syndrome associated with the TK2 mutation throughout the world. The ...

Mitochondrial DNA depletion syndrome - Wikipedia

Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in ...

Mitochondrial Depletion Syndrome

Mitochondrial Depletion Syndrome (MDS) refers to a group of rare genetic disorders that limit the number of mitochondria inside of cells. Mitochondria are ...

Mitochondrial Myopathy of Childhood Associated ... - JAMA Network

Conclusions These results document the importance of screening the TK2 gene in patients with myopathic mitochondrial DNA depletion syndrome and confirm that ...

Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac ...

It is a heterogeneous group of progressive disorders characterized by the low mtDNA copy number. TK2, FBXL4, TYPM, and AGK are genes known to be related to MDS.

Mitochondrial DNA Depletion Syndromes: Review and Updates of ...

MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes, which function in either maintaining the mitochondrial nucleotide pool (TK2, ...

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial ...

Mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a devastating disorder ... Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene.

Clinical Spectrum of Mitochondrial DNA Depletion Due to Mutations ...

Mitochondrial myopathy due to mtDNA depletion syndrome is a rare condition, and TK2 mutations do not account for all cases. Early studies described severe ...

Syndromes associated with mitochondrial DNA depletion

Mutations in TK2 primarily affect muscle tissue, and have little or no effect on the liver, brain, heart or skin. The clinical presentation of ...

Mitochondrial DNA Depletion | Orphanet

Mitochondrial DNA depletion syndrome; mitochondrial deoxythymidine kinase (TK2); mitochondrial deoxyguanosine kinase gene (DGUOK); mutation screening ...

This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of TK2-Related ...