Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Seito Hisamatsu"'
Autor:
Hiroshi Suzumura, Satomi Mitsuhashi, Seito Hisamatsu, Osamu Arisaka, Satoru Noguchi, Ishiyama Akihiko, Noriko Sumitomo, Thanes Termglinchan, George Imataka, Masayuki Sasaki, Ikuya Nonaka, Yu-ichi Goto, Nobuyuki Murakami, Junko Ohmori, Ichizo Nishino, Narihiro Minami
Publikováno v:
Neurology: Genetics
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d409df2832f9b47023b3aa1247dd8b58
https://pubmed.ncbi.nlm.nih.gov/27660820
https://pubmed.ncbi.nlm.nih.gov/27660820
Publikováno v:
The Journal of Pediatrics. 160:351
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57835148acc0a1189aca2c03a32f42d3
https://doi.org/10.1016/j.jpeds.2011.08.068
https://doi.org/10.1016/j.jpeds.2011.08.068