Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations |
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| Authors: | James Collins Kevin E Bove David Dimmock Paula Morehart Lee-Jun Wong Brenda Wong |
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| Institution: | aDivision of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA;bDivision of Pathology and Laboratory Medicine, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA;cDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA |
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| Abstract: | The mitochondrial DNA depletion syndromes (MDS) are autosomal recessive disorders with a decreased mitochondrial DNA copy number. Mutations in thymidine kinase 2 (TK2) have been responsible for the myopathic form of MDS. We describe a child with congenital muscle weakness who had a progressive mitochondrial myopathy associated with extensive fibro-fatty replacement of myofibers resembling muscular dystrophy. MDS was suspected based upon findings in the initial muscle biopsy. Sequence analysis of the TK2 gene revealed two novel heterozygous mutations: the frame shift mutation, c.255_c.258delAGAA, and the heterozygous missense mutation, c.515G>A, (p.R172Q). This report extends the phenotype and genotype of TK2 defects. |
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| Keywords: | Mitochondrial DNA depletion syndrome Thymidine kinase 2 Myopathy Respiratory chain |
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