Late-Onset Myopathy and Recurrent Rhabdomyolysis Case Report: Compound Heterozygosis and Novel Thymidine Kinase-2 Mutation

Acosta I, Valdés JM, Díaz J and Verdugo R

Department of Neurology and Psychiatry, Clínica Alemana Santiago, Chile
Translational Neurology and Neurophysiology Laboratory, NODO Laboratory, East Neuroscience Department School of Medicine, Universidad de Chile, Chile
Department of Neurology, Hospital del Salvador, Chile
Department of Neurology and Psychiatry, Clínica Alemana Universidad del Desarrollo, Chile
Department of Radiology, Clínica Alemana Santiago, Chile
These authors contributed equally to this work

^*Correspondance to: Ignacio Javier Acosta 

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Abstract:

Thymidine kinase 2 deficiency myopathy is a rare autosomal recessive disease with a broad spectrum of severity. The thymidine kinase 2 gene encode for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. The most frequent mutation is p.Lys202del and compounds heterozygous forms have been reported. We report a 50-year-old female with recurrent rhabdomyolysis, bilateral ptosis, and girdle limb weakness. Muscle biopsy presented frequent, red-raged fibers and dystrophic changes. The most severely affected muscles in magnetic resonance imaging axial T1-weighted sequences were the gluteus maximus, sartorius and tensor fasciae latae muscles. We found a compound heterozygous mutation in the thymidine kinase 2 gene (pathogenic mutation in [c.323C>T p.(Thr108Met)] and novel mutation in [c.268C>T p.(Arg90Cys)]). Deoxynucleoside therapy was offered.

Keywords:

Thymidine kinase 2; Myopathy; Rhabdomyolysis; Mitochondria

Cite the Article:

Acosta I, Valdés JM, Díaz J, Verdugo R. Late-Onset Myopathy and Recurrent Rhabdomyolysis Case Report: Compound Heterozygosis and Novel Thymidine Kinase-2 Mutation. Clin Case Rep Int. 2023; 7: 1526.