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

• Autors principals: Shuiyan Wu (Autor), Weixi Li (Autor), Zhenjiang Bai (Autor), Saihu Huang (Autor), Daoping Yang (Autor), Hongmei Chen (Autor), Ying Li (Autor), Ying Liu (Autor), Haitao Lv (Autor)
• Format: Llibre
• Publicat: BMC, 2022-02-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

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...