MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MDS) is a very rare condition, and only a few cases have been reported in East Asian countries. Here, we describe four Korean children affected by hepatocerebral MDS. The DGUOK, POLG1, and MPV17 genes were analyzed, and all patients...

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Detalles Bibliográficos
Autores principales: Kim, Joonil, Kang, Eungu, Kim, Yoonmyung, Kim, Jae-Min, Lee, Beom Hee, Murayama, Kei, Kim, Gu-Hwan, Choi, In Hee, Kim, Kyung Mo, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976613/
https://www.ncbi.nlm.nih.gov/pubmed/27536553
http://dx.doi.org/10.1016/j.ymgmr.2016.06.006
Descripción
Sumario:MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MDS) is a very rare condition, and only a few cases have been reported in East Asian countries. Here, we describe four Korean children affected by hepatocerebral MDS. The DGUOK, POLG1, and MPV17 genes were analyzed, and all patients had MPV17 mutations.

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