Article
tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly.
BMJ open diabetes research & care - 1 Oct 2020
Lin Hu, Zhou Xuelian, Chen Xuefeng, Huang Ke, Wu Wei, Fu Junfen, Li Yangxi, Polychronakos Constantin, Dong Guan-Ping
Abstract excerpt
INTRODUCTION: Loss-of-function mutations in tRNA methyltransferase 10 homologue A (TRMT10A), a tRNA methyltransferase, have recently been described as a monogenic cause of early-onset diabetes with microcephaly, epilepsy and intellectual disability. RESEARCH DESIGN AND METHODS: We report a Chinese young patient who was diagnosed with diabetes mellitus as a result of a TRMT10A mutation. RESULTS: A homozygous...
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