1.
Neurol Genet
; 2(5): e95, 2016 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27660820
RESUMO
Recessive mutations in TK2 cause a severe mitochondrial DNA depletion syndrome (MDS),(1) characterized by severe myopathy from early infancy. Recent reports have suggested a wider clinical spectrum including encephalomyopathic form.(1,2) We report a patient with infantile-onset fatal encephalomyopathy presenting with extreme muscle fiber immaturity.
2.
J Pediatr
; 160(2): 351, 2012 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21996157