Now showing items 1-3 of 3
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy [Article]
(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 ...
Late-onset thymidine kinase 2 deficiency: a review of 18 cases [Article]
(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 ...