IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy

OBJECTIVE: To determine the molecular factors contributing to progressive cavitating leukoencephalopathy (PCL) to help resolve the underlying genotype-phenotype associations in the mitochondrial iron-sulfur cluster (ISC) assembly system. METHODS: The subjects were 3 patients from 2 families who show...

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Publié dans:Neurol Genet
Auteurs principaux: Ishiyama, Akihiko, Sakai, Chika, Matsushima, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Endo, Yukari, Hayashi, Yukiko K., Saito, Yoshiaki, Nakagawa, Eiji, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Sato, Noriko, Nonaka, Ikuya, Goto, Yu-ichi, Nishino, Ichizo
Format: Artigo
Langue:Inglês
Publié: Wolters Kluwer 2017
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5591399/
https://ncbi.nlm.nih.gov/pubmed/28913435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000184
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