A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

Mitochondrial diseases are a heterogeneous group of genetic disorders caused by pathogenic variants in genes encoding gene products that regulate mitochondrial function. These genes are located either in the mitochondrial or in the nuclear genome. The TOMM7 gene encodes a regulatory subunit of the t...

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Detalles Bibliográficos
Autores principales: Young, Cameron, Batkovskyte, Dominyka, Kitamura, Miyuki, Shvedova, Maria, Mihara, Yutaro, Akiba, Jun, Zhou, Wen, Hammarsjö, Anna, Nishimura, Gen, Yatsuga, Shuichi, Grigelioniene, Giedre, Kobayashi, Tatsuya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589026/
https://www.ncbi.nlm.nih.gov/pubmed/36299998
http://dx.doi.org/10.1016/j.xhgg.2022.100148

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589026/
https://www.ncbi.nlm.nih.gov/pubmed/36299998
http://dx.doi.org/10.1016/j.xhgg.2022.100148

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