Mostrando ítems 1-3 de 3
Artículo
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
(Springer Nature, 2019-05-06)
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of ...
Artículo
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
(Springer Nature, 2019-03-01)
TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation ...