Ruoyi Ishikawa Masahiro Nakamori Megumi Takenaka Shiro Aoki Yu Yamazaki Akihiro Hashiguchi Hiroshi Takashima Hirofumi Maruyama
10.3389/fneur.2023.1187822
Front Neurol
2023 Jun 13;14:1187822.
cns demyelination mtp deficiency brain calcification cerebral gadolinium enhancement higher brain dysfunction peripheral neuropathy
CC BY
https://pubmed.ncbi.nlm.nih.gov/37388542/
Case Reports
PMC10299898
37388542
Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
2023