Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome

TK2-related Myopathic Mitochondrial Depletion Syndrome

“…Generally, TK2 mutations may manifest not only in the muscle but also in the brain as encephalopathy, epilepsy, or white or gray matter lesions, 2,3 in the peripheral nerves as axonal neuropathy, 3 in the liver as reduced mtDNA copy number, 4 in the ears as hearing loss, 5 or in the extraocular muscles as ptosis or chronic progressive external ophthalmoplegia. 5,6 Did the patient undergo neuropsychological testing to see if there were any cognitive deficits?…”

Helix: October 2016 issue

“…These full-length articles are complemented by 6 Clinical/Scientific Notes on late-onset Lafora disease due to EPM2a mutation, 7 the analysis of a glucocerebrosidase variant in Parkinson disease (Mallet et al 8 ), the causation of Leigh syndrome by a mutation in MT-TL2 , 9 a novel de novo missense mutation in GNB1 causing dystonia and intellectual disability, 10 and novel TK2 mutations as a cause of delayed muscle maturation. 11 …”