Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene

Author:

Chanprasert Sirisak,Wang Jing,Weng Shao-Wen,Enns Gregory M.,Boué Daniel R.,Wong Brenda L.,Mendell Jerry R.,Perry Deborah A.,Sahenk Zarife,Craigen William J.,Alcala Francisco J. Climent,Pascual Juan M.,Melancon Serge,Zhang Victor Wei,Scaglia Fernando,Wong Lee-Jun C.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference34 articles.

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2. Disorders of nuclear-mitochondrial intergenomic signaling;Spinazzola;Gene,2005

3. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases;Moraes;Am. J. Hum. Genet.,1991

4. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease;Kornblum;Nat. Genet.,2013

5. Inherited mitochondrial diseases of DNA replication;Copeland;Annu. Rev. Med.,2008

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