Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report

Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report

Abstract 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 diplegi...

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Bibliographic Details
Main Authors: Shuiyan Wu, Weixi Li, Zhenjiang Bai, Saihu Huang, Daoping Yang, Hongmei Chen, Ying Li, Ying Liu, Haitao Lv
Format: Article
Language:English
Published: BMC 2022-02-01
Series:BMC Pediatrics
Subjects:
COXPD26
Medical exome sequencing
TRMT5
Mutation
Case report
Online Access:https://doi.org/10.1186/s12887-022-03138-z

Internet

https://doi.org/10.1186/s12887-022-03138-z

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