Article
Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report.
BMC pediatrics - 2 Feb 2022
Wu Shuiyan, Li Weixi, Bai Zhenjiang, Huang Saihu, Yang Daoping, Chen Hongmei, Li Ying, Liu Ying, Lv Haitao
Abstract excerpt
BACKGROUND: Combined oxidative phosphorylation deficiency 26 (COXPD26) is an autosomal recessive disorder characterized by early onset, developmental delay, gastrointestinal dysfunction, shortness of breath, exercise intolerance, hypotonia and muscle weakness, neuropathy, and spastic diplegia. This disease is considered to be caused by compound heterozygous mutations in the TRMT5 gene. CASE PRESENTATION: In this...
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