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

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...

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Detalles Bibliográficos
Autores principales:	Wu, Shuiyan, Li, Weixi, Bai, Zhenjiang, Huang, Saihu, Yang, Daoping, Chen, Hongmei, Li, Ying, Liu, Ying, Lv, Haitao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8808961/ https://www.ncbi.nlm.nih.gov/pubmed/35109800 http://dx.doi.org/10.1186/s12887-022-03138-z

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