| 概要 |
Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is a novel severe neurodegenerative disease with microcephaly, hypotonia, and severe intellectual disability. It has been reported that mutations in DTYMK cause this disease. DTYMK encodes deoxythymidine monophosphate kinase, a key enzyme in dTTP nucleotide metabolism.
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| 著者 |
Vanoevelen JM, Bierau J, Grashorn JC, Lambrichs E, Kamsteeg EJ, Bok LA, Wevers RA, van der Knaap MS, Bugiani M, Frisk JH, Colnaghi R, O'Driscoll M, Hellebrekers DMEI, Rodenburg R, Ferreira CR, Brunner HG, van den Wijngaard A, Abdel-Salam GMH, Wang L, Stumpel CTRM |
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