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Article

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

27 Apr 2010

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Share to Metabolism and Genetic Disorders
Share to Mitochondrial Function and Pathology
Share to Neonatal Health and Biochemistry

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20421844
DOI: 10.1203/pdr.0b013e3181e33bbe

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 GenePMID 20421844Read ↗

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.Semantic proximity Read ↗

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.Semantic proximity Read ↗

DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance.Semantic proximity Read ↗

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.Semantic proximity Read ↗

The clinical and audiologic features of mitochondrial hearing loss.Semantic proximity Read ↗

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

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene.Semantic proximity Read ↗

Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging TherapiesSemantic proximity Read ↗

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.Semantic proximity Read ↗

Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.Semantic proximity Read ↗

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.Semantic proximity Read ↗

Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.Semantic proximity Read ↗

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